Ontario Genetic Test Directory

This directory lists diagnostic genetic tests available in Ontario for rare and inherited diseases, including molecular genetic, constitutional cytogenetic and pharmacogenetic tests.

This directory does not include:

Please contact your local genetics laboratory to confirm availability of testing, patient eligibility or sample requirements.

See genetics guidance for evidence-based clinical guidance on genetic testing in Ontario, and the Ontario Genetics Clinic Directory for a list of genetics clinics in Ontario.

The information in this directory is intended for informational purposes only and may not reflect all recent updates.

Note: OntarioHealth.ca has transitioned to a redesigned site. We are aware that the search function for the Ontario Genetic Test Directory is no longer available. It is expected to return in a future phase of the redesign. We apologize for the inconvenience. In the meantime, please use the filters to assist in your search.

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Skeletal\Growth
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Lab/Location

London Health Sciences Centre
The Hospital for Sick Children
National Inherited Bleeding Disorder Genotyping Laboratory, KGH
Dynacare
St. Michael’s Hospital
Sunnybrook Health Sciences Centre
North York General Hospital
Kingston General Hospital
Mount Sinai Hospital
Children's Hospital of Eastern Ontario
Trillium Health Partners - Credit Valley Hospital
Newborn Screening Ontario
Hamilton Health Sciences Centre
University Health Network

Test type

Targeted Variant
Cytogenetic
Single Gene
Genome-wide
Gene Panel
Other
Showing 10 of 641 results

22q11.2 Deletion Syndrome

Category:
Neurodevelopmental
Sub Category:
22q11.21 Deletion Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome
Gene/Platform/Region List:
22q11.2

Achondroplasia / Hypochondroplasia

Category:
Skeletal\Growth
Sub Category:
Achondroplasia and Hypochondroplasia
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Skeletal dysplasia, Achondroplasia, Hypochondroplasia

Gene/Platform/Region List:

FGFR1, FGFR2, FGFR3, TWIST1

Actionable Gene Epilepsy Panel

Category:
Neurogenetics
Sub Category:
Actionable Epilepsy
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Epilepsy
Gene/Platform/Region List:
ALDH7A1, AMT, ATP7A, CAD, FOLR1, GAMT, GLDC, KCNQ2, KCNT1, MOCS1, PHGDH, PLPBP, PNPO, POLG, PSAT1, PSPH, SCN1A, SLC19A3, SLC2A1, SLC6A8, SUOX, TPP1, TRPM3, TSC1, TSC2

Adult Cardiomyopathy Panel

Category:
Cardiogenetics
Sub Category:
Cardiomyopathy
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:

Cardiomyopathy

Gene/Platform/Region List:

ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SOS1, SOS2, TAFAZZIN, TBX5, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

Adult Cardiomyopathy and Arrythmia Panel

Category:
Cardiogenetics
Sub Category:
Cardiomyopathy and Arrhythmia
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:

Cardiomyopathy and Arrhythmia

Gene/Platform/Region List:

ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SLC22A5, SLC4A3, SOS1, SOS2, TAFAZZIN, TBX5, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

Adult Cardiomyopathy and Arrythmia Panel

Category:
Cardiogenetics
Sub Category:
Cardiomyopathy and Arrhythmia
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Cardiomyopathy and Arrhythmia

Gene/Platform/Region List:

ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SLC22A5, SLC4A3, SOS1, SOS2, TAFAZZIN, TBX5, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

Adult Cardiomyopathy panel

Category:
Cardiogenetics
Sub Category:
Cardiomyopathy
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Cardiomyopathy

Gene/Platform/Region List:

ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SOS1, SOS2, TAFAZZIN, TBX5, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

Adult Hypertrophic Cardiomyopathy Panel

Category:
Cardiogenetics
Sub Category:
Hypertrophic Cardiomyopathy
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:

Hypertrophic Cardiomyopathy

Gene/Platform/Region List:

ABCC9, ACTC1, ACTN2, ALPK3, BRAF, CACNA1C, CSRP3, DES, FHL1, FHOD3, FLNC, GLA, HRAS, JPH2, KLHL24, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NRAS, PLN, PPP1CB, PRKAG2, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL

Adult Hypertrophic Cardiomyopathy Panel

Category:
Cardiogenetics
Sub Category:
Hypertrophic Cardiomyopathy
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Hypertrophic Cardiomyopathy

Gene/Platform/Region List:

ABCC9, ACTC1, ACTN2, ALPK3, BRAF, CACNA1C, CSRP3, DES, FHL1, FHOD3, FLNC, GLA, HRAS, JPH2, KLHL24, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NRAS, PLN, PPP1CB, PRKAG2, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL

Adult Mitochondrial Disease Nuclear Gene Panel

Category:
Mitochondrial
Sub Category:
Mitochondrial nuclear gene
Lab:
Test type:
Gene Panel
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:
Kearns-Sayre Syndrome, Leber's Hereditary Optic Neuropathy (LHON), MELAS, myoclonic epilepsy with ragged red fibers (MERRF), neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), Pearson marrow pancreas syndrome, Progressive external ophthalmoplegia (PEO), Hepatocerebral mtDNA depletion syndrome (Deoxyguansine kinase deficiency (DGUOK)), Myopathic mtDNA depletion syndrome (Thymidine kinase deficiency (TK2)), SANDO syndrome, ALPERS syndrome, SCAE syndrome, familial PEO
Gene/Platform/Region List:
AARS2, ABCB7, ACADVL, ADCK3, APTX, BCS1L, BOLA3, C10orf2, CLPP, COQ2, COQ4, COQ9, COX10, CPT2, DARS2, DGUOK, DNA2, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FXN, GFER, GFM1, GLRX1 (GLRX2), GLRX5, HADHA, HARS2, HSD17B1, HSPD1, IARS, IARS2, ISCU, LARS2, MARS2, MFN2, MPV17, MRPS16, MRPS22, NFU1, OPA1, PDHA1, PDSS1, PDSS2, POLG, POLG2, PUS1, RARS2, RMRP, RRM2B, SACS, SARS2, SDHA, SDHAF1, SDHB, SDHD, SETX, SLC25A4, SPG7, SUCLA2, SUCLG1, TAZ, TIMM8A, TK2, TSFM, TUFM, TWNK, TYMP, YARS2

Aicardi-Goutieres syndrome

Category:
Immunity
Sub Category:
Primary immune deficiencies
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Aicardi-Goutieres syndrome
Gene/Platform/Region List:
ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1

Alpha Thalassemia

Category:
Hematology
Sub Category:
Alpha Thalassemia
Lab:
Test type:
Gene Panel
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:

Alpha Thalassemia, Alpha thalassemia silent carrier, Alpha thalassemia minor (trait), Hemoglobin H (HbH) disease, Hemoglobin H-Constant Spring, Hb Bart's hydrops fetalis

Gene/Platform/Region List:

HBA1, HBA2, HBZ

Amyloidosis

Category:
Renal
Sub Category:
Amyloidosis
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Amyloidosis, Familial Amyloid Polyneuropathy, Familial Transthyretin Amyloidosis, Hereditary ATTR Amyloidosis
Gene/Platform/Region List:
TTR

Amyloidosis

Category:
Renal
Sub Category:
Amyloidosis
Lab:
Test type:
Single Gene
Lab/Location:
Kingston General Hospital
Disease/Condition:
Amyloidosis, Familial Amyloid Polyneuropathy, Familial Transthyretin Amyloidosis, Hereditary ATTR Amyloidosis
Gene/Platform/Region List:
TTR

Amyloidosis panel

Category:
Renal
Sub Category:
Amyloidosis
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Amyloidosis, Familial Amyloid Polyneuropathy, Familial Transthyretin Amyloidosis, Hereditary ATTR Amyloidosis
Gene/Platform/Region List:
APOA1, APOA2, B2M, FGA, GSN, LYZ, TTR

Aneuploidy Testing - Fetal Demise

Category:
Chromosomal Anomalies, Fertility\Reproductive
Sub Category:
Aneuploidy Studies- Perinatal
Lab:
Test type:
Other
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:

Trisomy (13, 15, 16, 18,21, 22) and Sex Determination (X,Y), Rapid Aneuploidy Determination (RAD)

Gene/Platform/Region List:

AMEL, D13S305, D13S325, D13S628, D13S634, D15S1515, D15S659, D15S822, D16S2621, D16S2624, D16S539, D16S753, D18S1002, D18S386, D18S535, D18S819, D21S11, D21S1411, D21S1437, D21S1442, D22S683, D22S685, D22S686, D22S689, Extra Reflex Markers: D13S252, D13S800, FES, FPS, SRY, TAF9L

Aneuploidy Testing - Post Natal

Category:
Chromosomal Anomalies
Sub Category:
Aneuploidy Studies
Lab:
Test type:
Other
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:

Trisomy (13, 18, 21) and Sex Determination (X,Y), Rapid Aneuploidy Determination (RAD)

Gene/Platform/Region List:

AMEL, D13S252, D13S305, D13S628, D13S634, D13S800, D18S386, D18S390, D18S535, D18S819, D18S978, D21S11, D21S1409, D21S1435, D21S1437, D21S1442, D21S1446, DXS1187, DXS6803, Extra Reflex Markers: D13S325, D13S762, D13S797, D18S391, D18S1002, D18S847, D18S977, D21S1411, DXS6807, DXS6809, DXS7423, DXS981, DXYS218, DXYS267, DYS448, HPRT, SRY, TAF9L

Angelman Syndrome

Category:
Neurodevelopmental
Sub Category:
Angelman/Prader Willi Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Angelman Syndrome (AS)

Gene/Platform/Region List:

15q11-13

Angelman Syndrome

Category:
Neurodevelopmental
Sub Category:
Angelman Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Angelman Syndrome (AS)
Gene/Platform/Region List:
SNRPN, UBE3A

Angelman Syndrome - UPD

Category:
Chromosomal Anomalies
Sub Category:
Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
Lab:
Test type:
Other
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

UPD15, Angelman Syndrome

Gene/Platform/Region List:

Chromosome 15

Arginase Deficiency

Category:
Metabolic
Sub Category:
Arginase Deficiency
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Arginase Deficiency, ARG1 Deficiency, Arginase-1 Deficiency, Hyperargininemia
Gene/Platform/Region List:
ARG1

Arrhythmia Panel

Category:
Cardiogenetics
Sub Category:
Arrhythmia
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
Arrhythmia
Gene/Platform/Region List:
CACNA1C, CALM1, CALM2, CALM3, CASQ2, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, GLA, HCN4, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LMNA, NKX2-5, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SCN5A, SLC22A5, SLC4A3, TBX5, TECRL, TMEM43, TNNI3K, TRDN, TRPM4, TTN, TTR

Arrhythmia Panel

Category:
Cardiogenetics
Sub Category:
Arrhythmia
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Arrhythmia
Gene/Platform/Region List:
CACNA1C, CALM1, CALM2, CALM3, CASQ2, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, GLA, HCN4, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LMNA, NKX2-5, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SCN5A, SLC22A5, SLC4A3, TBX5, TECRL, TMEM43, TNNI3K, TRDN, TRPM4, TTN, TTR

Ashkenazi Jewish Panel

Category:
Cancer
Sub Category:
Ashkenazi Jewish Panel
Lab:
Test type:
Targeted Variant
Lab/Location:
Mount Sinai Hospital
Disease/Condition:

Ashkenazi Jewish Panel

Gene/Platform/Region List:

APC c.3920T>A p.Ile1307Lys, BRCA1 c.5266dupC p.Gln1756Profs, BRCA1 c.68_69del p.Glu23fs, BRCA2 c.5946del p.Ser1982fs, CHEK2 c.1283C>T p.Ser428Phe, GREM1 40 kb dup, MSH2 c.1906G>C p.Ala636Pro, MSH6 c.3959_3962delCAAG p.Ala1320Glufs, MSH6 c.3984_3987dupGTCA p.Leu1330Valfs

Ashkenazi Jewish Panel

Category:
Cancer
Sub Category:
Ashkenazi Jewish Panel
Lab:
Test type:
Targeted Variant
Lab/Location:
North York General Hospital
Disease/Condition:

Ashkenazi Jewish Panel

Gene/Platform/Region List:

APC NM_000038.6 c.3920T>A (p.Ile1307Lys) (APC I1307K), BRCA1 NM_007294.3 c.68_69del (p.Glu23Valfs*17) 185delAG, BRCA2 NM_000059.3 c.5946del (p.Ser1982Argfs*22) 617delT, CHEK2 NM_007194.3 c.1283C>T (p.Ser428Phe) c.620C>T NM_001257387, GREM1 NM_013372.6 CNV analysis, MSH2 NM_000251.2 c.1906G>C (p.Ala636Pro) A636P, MSH6 NM_000179.2 c.3984_3987dupGTCA (p.Leu1330Valfs*12)

Ashkenazi Jewish Panel

Category:
Cancer
Sub Category:
Ashkenazi Jewish Panel
Lab:
Test type:
Targeted Variant
Lab/Location:
Kingston General Hospital
Disease/Condition:

Ashkenazi Jewish Panel

Gene/Platform/Region List:

APC NM_000038.6 c.3920T>A (p.Ile1307Lys) (APC I1307K), BRCA1 NM_007294.3 c.5266dup (p.Gln1756Profs*74) 5382insC, BRCA1 NM_007294.3 c.68_69del (p.Glu23Valfs*17) 185delAG, BRCA2 NM_000059.3 c.5946del (p.Ser1982Argfs*22) 617delT, CHEK2 NM_007194.3 c.1283C>T (p.Ser428Phe) c.620C>T NM_001257387, GREM1 NM_013372.6 CNV analysis, MSH2 NM_000251.2 c.1906G>C (p.Ala636Pro) A636P, MSH6 NM_000179.2 c.3959_3962delCAAG (p.Ala1320Glufs*6), MSH6 NM_000179.2 c.3984_3987dupGTCA (p.Leu1330Valfs*12)

Ashkenazi Jewish Panel

Category:
Cancer
Sub Category:
Ashkenazi Jewish Panel
Lab:
Test type:
Targeted Variant
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Ashkenazi Jewish Panel

Gene/Platform/Region List:

APC NM_000038.6 c.3920T>A (p.Ile1307Lys) (APC I1307K), BRCA1 NM_007294.3 c.5266dup (p.Gln1756Profs*74) 5382insC, BRCA1 NM_007294.3 c.68_69del (p.Glu23Valfs*17) 185delAG, BRCA2 NM_000059.3 c.5946del (p.Ser1982Argfs*22) 617delT, CHEK2 NM_007194.3 c.1283C>T (p.Ser428Phe) c.620C>T NM_001257387, GREM1 NM_013372.6 CNV analysis, MSH2 NM_000251.2 c.1906G>C (p.Ala636Pro) A636P, MSH6 NM_000179.2 c.3959_3962delCAAG (p.Ala1320Glufs*6), MSH6 NM_000179.2 c.3984_3987dupGTCA (p.Leu1330Valfs*12)

Ashkenazi Jewish Panel

Category:
Cancer
Sub Category:
Ashkenazi Jewish Panel
Lab:
Test type:
Targeted Variant
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:

Ashkenazi Jewish Panel

Gene/Platform/Region List:

APC (I1307K), BRCA1 (185delAG or 187delAG), BRCA1 (5382insC or 5385insC), BRCA2 (617delT), CHEK2 (1283C>T), GREM1 (40 kb dup), MSH2 (A636P), MSH6 (c.3959_3962delCCAG), MSH6 (c.3984_3987dupGTCA)

Ashkenazi Jewish Panel

Category:
Cancer
Sub Category:
Ashkenazi Jewish Panel
Lab:
Test type:
Targeted Variant
Lab/Location:
University Health Network
Disease/Condition:

Ashkenazi Jewish Panel

Gene/Platform/Region List:

APC (I1307K), BRCA1 (185delAG or 187delAG), BRCA1 (c.5382insC), BRCA2 (617delT), CHEK2 (1283C>T), GREM1 (40 kb dup), MSH2 (A636P), MSH6 (c.3959_3962delCCAG), MSH6 (c.3984_3987dupGTCA)

Ashkenazi Jewish panel

Category:
Fertility\Reproductive
Sub Category:
Ashkenazi Jewish Screening panel
Lab:
Test type:
Targeted Variant, Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Ashkenazi Jewish Panel, Bloom syndrome, Canavan disease, Familial Dysautonomia, Fanconi Anemia Group C, Mucolipidosis IV, Niemann-Pick disease,Tay-Sachs disease

Gene/Platform/Region List:

ASPA, BLM, FANCC, HEXA, IKBKAP, MCOLN1, SMPD1

Autoinflammatory Disease Panel: Recurrent Fever Syndrome

Category:
Immunity
Sub Category:
Recurrent Fever Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Recurrent Fever Syndrome and Macrophage Activation Syndrome (MAS), Autosomal Dominant Familial Periodic Fever, Blau Syndrome, Cat Eye syndrome, Chronic Infantile Neurological Cutaneous and Articular Syndrome, Cyclic Neutropenia, DADA2 / PAN, Familial Cold Autoinflammatory Syndrome 1, Familial Mediterranean Fever, Hyper IgD Syndrome, Macrophage activation syndrome MAS, Majeed syndrome, Muckle-Wells Syndrome, PAPA (Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome), Periodic Fever, Pityriasis Rubra Pilaris (PRP), Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne, Recurrent fever, Severe congenital neutropenia, TRAPS
Gene/Platform/Region List:
MEFV, MVK, NLRP12, NLRP3, TNFRSF1A

Autoinflammatory Disease: AI Panel 3

Category:
Immunity
Sub Category:
Autoinflammatory Disease
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Gene/Platform/Region List:
ARPC1B, CARD14, CDC42, CECR1 (ADA2), COPA, ELANE, IL1RN, IL36RN, LACC1, LPIN2, NLRC4, NOD2, OTULIN, PLCG2, POMP, PSMB8, PSTPIP1, RAB27A, RBCK1, RIPK1, SH3BP2, SLC29A3, TMEM173 (STING1), TNFAIP3, TRNT1

Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel

Category:
Immunity
Sub Category:
Hemophagocytic Lymphohistiocytosis (HLH)
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Hemophagocytic lympohistiocytosis (HLH) and Macrophage Activation Syndrome (MAS), Hemophagocytic Lymphohistiocytosis (HLH), Macrophage activation syndrome MAS, X- linked lymphoproliferative (XLP) syndromes 1 and 2, Hermansky- Pudlak syndrome types 2 and 9, Chediak-Higashi syndrome, Griscelli syndrome Type 2, Macrophage activation syndrome
Gene/Platform/Region List:
AP3B1, BLOC1S6, CD27, ITK, LYST, NLRC4, PRF1, CD70, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, XIAP, MAGT1

Autosomal dominant PKD Analysis

Category:
Renal
Sub Category:
Polycystic Kidney Disease
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Polycystic Kidney Disease Autosomal Dominant (ADPKD), adult polycystic kidney disease (APKD)
Gene/Platform/Region List:
PKD1, PKD2

Autosomal recessive PKD Analysis

Category:
Renal
Sub Category:
Polycystic Kidney Disease
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Polycystic Kidney Disease Autosomal Recessive (ARPDK), adult polycystic kidney disease (APKD)
Gene/Platform/Region List:
PKHD1

Basal Cell Nevus Syndrome

Category:
Cancer
Sub Category:
Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome
Gene/Platform/Region List:
PTCH1, SUFU

Batten Disease

Category:
Metabolic
Sub Category:
Batten Disease (Neuronal Ceroid Lipofuscinoses)
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Batten Disease, neuronal ceroid lipofuscinosis (NCL)
Gene/Platform/Region List:
CLN2, CLN3, TPP1

Becker Muscular Dystrophy

Category:
Neurogenetics
Sub Category:
Becker Muscular Dystrophy
Lab:
Test type:
Single Gene
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
BMD, DMD-associated dilated cardiomyopathy
Gene/Platform/Region List:
DMD

Beckwith-Wiedemann Syndrome

Category:
Skeletal\Growth
Sub Category:
Beckwith-Wiedemann Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
BWS, Wiedemann-Beckwith Syndrome, IMAGe Syndrome
Gene/Platform/Region List:
CDKN1C, H19 (IC1), KCNQ1 (IC2), 11p15

Beta Thalassemia

Category:
Hematology
Sub Category:
Beta Thalassemia
Lab:
Test type:
Gene Panel
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:

Beta Thalassemia, beta thalassemia major (Cooley's Anemia), Mediterranean Anemia, beta thalassemia intermedia, beta thalassemia minor (beta thalassemia trait), dominant beta thalassemia

Gene/Platform/Region List:

HBB, HBD, HbE, HBG1, HBG2

Biotinidase Deficiency (BTD gene)

Category:
Metabolic
Sub Category:
Biotinidase Deficiency
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Biotinidase Deficiency, Late-Onset Multiple Carboxylase Deficiency, BTD Deficiency, infantile multiple carboxylase deficiency, juvenile multiple carboxylase deficiency, delayed-onset biotinidase deficiency, profound biotinidase deficiency, partial biotinidase deficiency
Gene/Platform/Region List:
BTD

Birt-Hogg-Dube Syndrome

Category:
Cancer
Sub Category:
Birt-Hogg-Dube Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
University Health Network
Disease/Condition:
Birt-Hogg-Dube Syndrome, BHD syndrome, Fibrofolliculomas with trichodiscomas and acrochordons, BHD, Hornstein-Knickenberg syndrome, Birt Hogg Dube syndrome
Gene/Platform/Region List:
FLCN

Birt-Hogg-Dube Syndrome

Category:
Cancer
Sub Category:
Birt-Hogg-Dube Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Birt-Hogg-Dube Syndrome
Gene/Platform/Region List:
FLCN

Bloom Syndrome

Category:
Hematology
Sub Category:
Bloom Syndrome
Lab:
Test type:
Cytogenetic, Targeted Variant
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Bloom Syndrome, Sister Chromatid Exchange

Gene/Platform/Region List:

All chromosomes, BLM

Brain Malformation Epilepsy Panel

Category:
Neurogenetics
Sub Category:
Brain Malformation Epilepsy
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Epilepsy
Gene/Platform/Region List:
ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ASNS, ATP1A2, ATP6V0A2, B3GALNT2, DCX, DYNC1H1, FKRP, FKTN, FLNA, GMPPB, GPSM2, GRIN1, KATNB1, KIF2A, LAMA2, LARGE1, NDE1, OCLN, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SCN3A, SNAP29, SRD5A3, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, VLDLR, WDR62

C9orf72-related disorders

Category:
Neurogenetics
Sub Category:
C9orf72-related disorders
Lab:
Test type:
Single Gene
Lab/Location:
North York General Hospital
Disease/Condition:
C9orf72-related disorders
Gene/Platform/Region List:
C9orf72 (GGGGCC repeats)

CACT deficiency

Category:
Metabolic
Sub Category:
Fatty Acid Oxidation Diseases
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Carnitine-Acylcarnitine Translocase Deficiency, CACT deficiency
Gene/Platform/Region List:
SLC25A20

CADASIL

Category:
Neurogenetics
Sub Category:
CADASIL
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), hereditary multi-infarct dementia
Gene/Platform/Region List:
NOTCH3

CMT/HMN/HSAN Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Charcot Marie Tooth disease (CMT), hereditary motor neuropathy (HMN), hereditary sensory and autonomic neuropathy (HSAN)
Gene/Platform/Region List:
AARS1, ABCA1, ABHD12, AGTPBP1, AIFM1, APTX, ARHGEF10, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CCT5, CD59, CFAP276, CHCHD10, CLTCL1, CNTNAP1, COA7, COX6A1, CPOX, CTDP1, CYP27A1, DARS2, DCAF8, DCTN1, DEGS1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, FAH, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FXN, GALC, GAN, GARS1, GBA2, GBF1, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, ITPR3, JAG1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, LAMP2, LDB3, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MEGF10, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MT-ATP6, MTMR2, MTRFR, MT-RNR1, MT-TL1, MTTP, NAGA, NAGLU, NARS1, NDRG1, NEFH, NEFL, NGF, NHERF1, NMNAT2, NTRK1, OPA1, OPA3, PCK2, PDHA1, PDK3, PEX10, PEX7, PHYH, PLEKHG5, PMM2, PMP2, PMP22, PNKP, POLG, POLR3A, PPOX, PRDM12, PRNP, PRPS1, PRX, PTPN11, RAB7A, REEP1, RETREG1, RFC1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SORD, SOX10, SPAST, SPG11, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TFG, TRIM2, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XK, XPA, YARS1, ZFHX2, ZFYVE26

CNS Tumour

Category:
Cancer
Sub Category:
Hereditary Central Nervous System (CNS) Tumours
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Central Nervous System Tumor
Gene/Platform/Region List:
APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

CPT1 deficiency

Category:
Metabolic
Sub Category:
Fatty Acid Oxidation Diseases
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Carnitine palmitoyltransferase I deficiency
Gene/Platform/Region List:
CPT1A

CPT2 deficiency

Category:
Metabolic
Sub Category:
Fatty Acid Oxidation Diseases
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Carnitine palmitoyltransferase II deficiency
Gene/Platform/Region List:
CPT2

Carney Complex

Category:
Cancer
Sub Category:
Carney Complex
Lab:
Test type:
Single Gene
Lab/Location:
University Health Network
Disease/Condition:
Carney syndrome, CNC, familial myxom, lentigines atrial myxoma and blue nevi (LAMB) syndrome, nevi atrial myxoma myxoid neurofibromas and ephelides (NAME) syndrome
Gene/Platform/Region List:
PRKAR1A

Carney Complex

Category:
Cancer
Sub Category:
Carney Complex
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Carney Complex
Gene/Platform/Region List:
PRKAR1A

Carney Complex

Category:
Cancer
Sub Category:
Carney Complex
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Carney Complex
Gene/Platform/Region List:
PRKAR1A

Carney Complex

Category:
Cancer
Sub Category:
Carney Complex
Lab:
Test type:
Single Gene
Lab/Location:
North York General Hospital
Disease/Condition:
Carney Complex
Gene/Platform/Region List:
PRKAR1A

Carney Complex

Category:
Cancer
Sub Category:
Carney Complex
Lab:
Test type:
Single Gene
Lab/Location:
Kingston General Hospital
Disease/Condition:
Carney Complex
Gene/Platform/Region List:
PRKAR1A

Carnitine Uptake Deficiency

Category:
Metabolic
Sub Category:
Fatty Acid Oxidation Diseases
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
carnitine transporter deficiency, carnitine uptake defect, carnitine uptake deficiency, CUD, CDSP
Gene/Platform/Region List:
SLC22A5

Central Nervous System Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Central Nervous System (CNS) Tumours
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Central Nervous System Gene Panel, Neurofibromatosis type 1, Schwannomatosis, tuberous sclerosis, Familial adenomatous polyposis, Lynch Syndrome Panel, Von Hippel-Lindau Syndrome
Gene/Platform/Region List:
APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

Childhood Onset Epilepsy Panel

Category:
Neurogenetics
Sub Category:
Childhood onset Epilepsy
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Epilepsy
Gene/Platform/Region List:
ADSL, ARX, ATP1A3, ATRX, CDKL5, CHD2, CLCN4, CNTNAP2, DEPDC5, DNAJC5, DYRK1A, EHMT1, FOXG1, GABBR2, GABRB2, GABRG2, GRIN2A, GRIN2D, KANSL1, KCNJ10, KCNMA1, KCNQ3, KDM5C, MBD5, MECP2, MEF2C, NEXMIF, NGLY1, NRXN1, PAK3, PCDH19, PHF6, PIGA, PIGN, PIGO, PNKP, POLG, PRRT2, RAB39B, ROGDI, SCN1A, SCN1B, SCN2A, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMARCA2, STX1B, SYN1, SYNGAP1, TBC1D24, TCF4, TRPM3, TSC1, TSC2, UBE3A, WDR45, ZEB2

Chromosome analysis

Category:
Fertility\Reproductive
Sub Category:
Chromosomal Anomalies
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Infertility, Recurrent pregnancy loss, Disorder of sex development (DSD), Prenatal

Chronic Granulomatous Disease

Category:
Immunity
Sub Category:
Primary immune deficiencies
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Chronic Granulomatous Disease (CGD)
Gene/Platform/Region List:
CYBA, CYBB, CYBC1, G6PD, NCF1, NCF2, NCF4

Comprehensive Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Comprehensive Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Comprehensive Cancer Panel (76 genes)
Gene/Platform/Region List:
AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR (T790M, V834I, V769M), EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13 (G84E), KIT, LZTR1, MAX, MEN1, MET, MITF (E318K), MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

Comprehensive Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Comprehensive Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Comprehensive Cancer Panel (76 genes)
Gene/Platform/Region List:
AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR (T790M, V834I, V769M), EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13 (G84E), KIT, LZTR1, MAX, MEN1, MET, MITF (E318K), MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

Comprehensive Epilepsy Panel

Category:
Neurogenetics
Sub Category:
Epilepsy
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Epilepsy
Gene/Platform/Region List:
ABAT, ACTB, ACTG1, ADGRG1, ADSL, AKT3, ALDH7A1, ALG13, AMT, AP3B2, ARFGEF2, ARHGEF9, ARV1, ARX, ASAH1, ASNS, ATP1A2, ATP1A3, ATP6V0A2, ATP7A, ATRX, B3GALNT2, CACNA1A, CACNA1E, CAD, CDKL5, CHD2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, CTSF, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FGF12, FKRP, FKTN, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GLDC, GMPPB, GNAO1, GOSR2, GPSM2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, HCN1, HNRNPU, ITPA, KANSL1, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIF2A, LAMA2, LARGE1, LGI1, MBD5, MDH2, MECP2, MEF2C, MFSD8, MOCS1, NDE1, NEU1, NEXMIF, NGLY1, NHLRC1, NPRL2, NPRL3, NRXN1, OCLN, PAFAH1B1, PAK3, PCDH19, PHF6, PHGDH, PIGA, PIGG, PIGN, PIGO, PIGT, PIGV, PLCB1, PLPBP, PNKP, PNPO, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPT1, PRRT2, PSAT1, PSPH, PURA, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RELN, ROGDI, RTTN, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SERPINI1, SGCE, SLC12A5, SLC13A5, SLC19A3, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SNAP29, SPATA5, SPTAN1, SRD5A3, ST3GAL5, STX1B, STXBP1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPP1, TRPM3, TSC1, TSC2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, UBA5, UBE3A, VLDLR, WDR45, WDR62, WWOX, YWHAG, ZEB2

Comprehensive Hereditary Breast/Ovarian and GI Panel

Category:
Cancer
Sub Category:
Hereditary Comprehensive Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Breast Cancer, Ovarian Cancer, Gastrointestinal Cancer
Gene/Platform/Region List:
APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, HOXB13, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

Congenital Adrenal Hyperplasia: Other

Category:
Endocrinology
Sub Category:
Congenital Adrenal Hyperplasia
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Congenital Adrenal Hyperplasia (CAH)
Gene/Platform/Region List:
ARMC5, CYP11B1, CYP11B2, CYP17A1, HSD3B2, POR, PRKAR1A, STAR

Congenital Muscle Diseases Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Congenital Muscle Diseases, Congenital myasthenic syndrome (CMS), congenital myopathy (CM), and congenital muscular dystrophy (CMD), congenital myotonic dystrophy.
Gene/Platform/Region List:
ACTA1, ACTN2, ACVR1, ADSS1, AGRN, ALG14, ALG2, ASCC3, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CACNA1H, CACNA1S, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLN3, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB4, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, ECEL1, EPG5, FHL1, FKBP14, FKRP, FKTN, FLNC, FXR1, GAA, GATM, GFPT1, GIPC1, GMPPB, GOLGA2, GOSR2, HACD1, HNRNPA1, HNRNPA2B1, HRAS, IGHMBP2, INPP5K, ISCU, ITGA7, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LMNA, LMOD3, LRP12, LRP4, MAP3K20, MB, MCOLN1, MEGF10, MICU1, MPDU1, MSTN, MSTO1, MTM1, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NEB, PABPN1, PAX7, PIEZO2, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PURA, PYROXD1, RAPSN, RILPL1, RPH3A, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC18A3, SLC25A1, SLC25A4, SLC5A7, SNAP25, SPEG, SPTBN4, STAC3, STIM1, SVIL, SYNE1, SYT2, TCAP, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM54, TRIM63, TRIP4, TTN, UNC13A, UNC45B, VAMP1, VCP, VMA21

Congenital Muscular Dystrophies Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Congenital Muscular Dystrophies
Gene/Platform/Region List:
ACTA1, B3GALNT2, B4GAT1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DNM2, DOLK, DPM1, DPM2, FHL1, FKRP, FKTN, GAA, GMPPB, GOLGA2, GOSR2, INPP5K, ITGA7, LAMA2, LARGE1, LMNA, MICU1, MPDU1, MSTO1, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, RYR1, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SYNE1, TCAP, TRAPPC11, TRIP4

Congenital Myasthenic Syndromes Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Gene/Platform/Region List:
AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, RYR1, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1

Congenital and Other Myopathies Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Congenital and Other Myopathies
Gene/Platform/Region List:
ACTA1, ACTN2, ACVR1, ADSS1, ASCC3, ATP2A1, BAG3, BICD2, BIN1, CACNA1H, CACNA1S, CASQ1, CAV3, CCDC78, CFL2, CHKB, CLN3, CNTN1, COL12A1, CRYAB, DES, DNAJB4, DNM2, DOK7, ECEL1, EPG5, FHL1, FKBP14, FLNC, FXR1, GATM, GIPC1, HACD1, HNRNPA1, HNRNPA2B1, HRAS, IGHMBP2, ISCU, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMP2, LDB3, LMNA, LMOD3, LRP12, MAP3K20, MB, MCOLN1, MEGF10, MICU1, MSTN, MTM1, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOT, MYPN, NEB, PABPN1, PAX7, PIEZO2, PLEC, PYROXD1, RILPL1, RYR1, RYR3, SCN4A, SELENON, SLC25A4, SPEG, SPTBN4, STAC3, STIM1, SVIL, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TPM2, TPM3, TRIM32, TRIM54, TRIM63, TRIP4, TTN, UNC45B, VCP, VMA21

Connective Tissue Disease: Bone Involvement Panel

Category:
Connective Tissue
Sub Category:
Bone Involvement
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Achondrogenesis Ib, Achondrogenesis, type IA, Achondrogenesis, type II, Achondroplasia, hypochondroplasia, thanatophoric dysplasia, Campomelic dysplasia, CHILD syndrome, Chondrodysplasia, Chondrodysplasia punctata, Homocystinuria, Stickler type II, Congenital contractural arachnodactyly (Beal), Cranioectodermal dysplasia type 1, Cranioectodermal dysplasia type 2, Cranioectodermal dysplasia type 3, Cranioectodermal dysplasia type 4, Crouzon syndrome, Diastrophic dysplasia, Familial thoracic aortic aneurysm, type 7, Fibrillinopathies including Marfan, Fibrochondrogenesis type 2, Fibrochondrogenesis, Stickler type III, Greenberg dysplasia, Hondrodysplasia punctata, Kniest dysplasia, Langer mesomelic dysplasia, Larsen syndrome, Leri-Weill dyschondrosteosis, Marshall syndrome, Metaphyseal chondrodysplasia, Murk Jansen type, Metatropic dysplasia, Multiple epiphyseal dysplasia, type 1, Multiple epiphyseal dysplasia, type 2, Multiple epiphyseal dysplasia, type 3, Multiple epiphyseal dysplasia, type 4, Multiple epiphyseal dysplasia, type 5, Multiple epiphyseal dysplasia, type 6, Osteopetrosis, type 5, Osteopetrosis, type 6, Pelger-Huet anomaly, Pseudoachondroplasia, Rhizomelic chondrodysplasia punctata, type 1, Schneckenbecken dysplasia, Schwartz-Jampel syndrome, type 1, SED, Maroteaux type, Short-rib thoracic dysplasia type 2 with or without polydactyly, Short-rib thoracic dysplasia type 4 with or without polydactyly, Short-rib thoracic dysplasia type 5 with or without polydactyly, Short-rib thoracic dysplasia type 6 with or without polydactyly, Short-rib thoracic dysplasia type 7 with or without polydactyly, Smith-McCort dysplasia, Spondylocarpotarsal synostosis syndrome, Spondylocheirodysplasia, Ehlers-Danlos syndrome-like syndrome, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia tarda, Spondylo-megaepiphyseal-metaphyseal dysplasia, Spondylometaepiphyseal dysplasia, short limb-hand type, Stickler syndrome, Stickler syndrome, type 4, Stickler syndrome, type 5, Stickler syndrome, type 6, Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Wolcott-Rallison syndrome
Gene/Platform/Region List:
ARSE, CBS, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, DYM, EBP, EIF2AK3, FBN1, FBN2, FGFR3, FLNB, HSPG2, IFT122, IFT43, IFT80, LBR, LIFR, MATN3, NEK1, NKX3-2, NSDHL, PEX7, PTH1R, SHOX, SLC26A2, SLC35D1, SLC39A13, SOX9, TRAPPC2, TRIP11, TRPV4, TTC21B, WDR19, WDR35

Connective Tissue Disease: Ehlers-Danlos Syndrome Panel

Category:
Cardiogenetics, Connective Tissue
Sub Category:
Ehlers-Danlos Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
EDS, Ehlers Danlos Syndrome
Gene/Platform/Region List:
ACTA2, ADAMTS2, ATP7A, B4GALT7 (no dosage), CHST14, COL3A1, COL5A1, COL5A2, COL1A1, COL1A2, DSE, FBN2, FKBP14, PLOD1, PRDM5, SLC39A13, SMAD3, TGFB2, TGFBR1, TNXB, TGFBR2, ZNF469

Connective Tissue Disease: Osteogenesis Imperfecta Panel

Category:
Connective Tissue
Sub Category:
Osteogenesis Imperfecta
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
OI, Osteogenesis Imperfecta
Gene/Platform/Region List:
ALPL, BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, P3H1, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1, XYLT2

Constitutional Chromosome Analysis

Category:
Chromosomal Anomalies, Fertility\Reproductive
Sub Category:
Chromosomal Anomalies
Lab:
Test type:
Cytogenetic
Lab/Location:
Kingston General Hospital
Disease/Condition:

Infertility, Recurrent pregnancy loss, Disorder of sex development (DSD), Prenatal

Gene/Platform/Region List:

G-band analysis, Whole Genome

Constitutional Chromosome Analysis, Routine GTG

Category:
Chromosomal Anomalies, Fertility\Reproductive, Limited Access
Sub Category:
Chromosomal Anomalies
Lab:
Test type:
Cytogenetic
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:

Ambiguous genitalia, Amenorrhea, Azoospermia/Oligospermia, Klinefelter syndrome, Premature/early menopause, Premature ovarian insufficiency, Recurrent pregnancy loss (≥3), Turner syndrome, Family Hx of Chromosome Rearrangement

Gene/Platform/Region List:

chromosome complement

Constitutional Chromosome Analysis, Routine GTG banding

Category:
Chromosomal Anomalies, Fertility\Reproductive, Limited Access
Sub Category:
Chromosomal Anomalies
Lab:
Test type:
Cytogenetic
Lab/Location:
North York General Hospital
Disease/Condition:

Ambiguous genitalia, Amenorrhea, Azoospermia/Oligospermia, Klinefelter syndrome, Premature/early menopause, Premature ovarian insufficiency, Recurrent pregnancy loss (≥3), Turner syndrome

Constitutional FISH Test: Wolf-Hirschhorn syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Wolf-Hirschhorn Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Kingston General Hospital
Disease/Condition:

Wolf-Hirschhorn syndrome (Wolf-Hirschhorn syndrome (WHS), 4p- syndrome, Pitt-Rogers-Danks syndrome (PRDS), monosomy 4p)

Gene/Platform/Region List:

NSD2(MMSET)/NELFA(WHSC2)

Constitutional FISH panel: 22q11.21 Deletion Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: 22q11.21 Deletion Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Kingston General Hospital
Disease/Condition:

22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome)

Gene/Platform/Region List:

HIRA (TUPLE1)

Constitutional FISH panel: Cri-du-Chat Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Cri-du-Chat Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Kingston General Hospital
Disease/Condition:

Cri-du-Chat Syndrome (Cri-du-Chat Syndrome, CdCS, 5p-, cat's cry syndrome, Lejeune syndrome)

Gene/Platform/Region List:

5p15.2 Region (D5S23/D5S721)

Constitutional FISH panel: Kallmann Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Kallmann Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Kingston General Hospital
Disease/Condition:

Kallmann Syndrome (Kallmann Syndrome, Idiopathic Hypogonadotropic Hypogonadism (IHH), Isolated Hypogonadotropic Hypogonadism (IHH), isolated GnRH deficiency (IGD), Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency)

Gene/Platform/Region List:

KAL

Constitutional FISH panel: Smith-Magenis Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Smith-Magenis Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Kingston General Hospital
Disease/Condition:

Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)

Gene/Platform/Region List:

SHMT1/TOP3A/FLII/LLGL1

Constitutional FISH panel: Steroid Sulfatase Deficiency

Category:
Chromosomal Anomalies
Sub Category:
FISH: Steroid Sulfatase Deficiency
Lab:
Test type:
Cytogenetic
Lab/Location:
Kingston General Hospital
Disease/Condition:

Steroid Sulfatase Deficiency (X-Linked Ichthyosis, Steroid Sulfatase Deficiency (SSD), Steroid sulfatase deficiency disease (SSDD), Placental steroid sulfatase deficiency)

Gene/Platform/Region List:

STS

Constitutional FISH panel: Williams Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Williams Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Kingston General Hospital
Disease/Condition:

Williams syndrome (Williams syndrome (WS), Williams-Beuren Syndrome (WBS), idiopathic infantile hypercalcemia (IHC), supravalvular aortic stenosis syndrome (SASS), Williams elfin facies syndrome, Beuren Syndrome, Elfin Facies with Hypercalcemia, Hypercalcemia-Supravalvar Aortic Stenosis, Early Hypercalcemia Syndrome with Elfin Facies)

Gene/Platform/Region List:

ELN

Constitutional FISH: 22q11.21 Deletion Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: 22q11.21 Deletion Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
London Health Sciences Centre
Disease/Condition:

DiGeorge (22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome))

Gene/Platform/Region List:

HIRA

Craniosynostosis Molecular Analysis

Category:
Skeletal\Growth
Sub Category:
Craniosynostosis
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Non-syndromic Craniosynostosis, Muenke syndrome, Muenke Nonsyndromic Coronal Craniosynostosis, Pfeiffer Syndrome, Acrocephalosyndactyly, Type V, Noack syndrome, Saethre-Chotzen Syndrome, Acrocephalosyndactyly, Type III, Acrocephaly, skull asymmetry and mild syndactyly, Crouzon Syndrome, Craniofacial dysostosis, Type I, Apert Syndrome, Acrocephalosyndactyly, Type I
Gene/Platform/Region List:
FGFR1, FGFR2, FGFR3, TWIST1

Cystic Fibrosis

Category:
Respiratory
Sub Category:
Cystic Fibrosis
Lab:
Test type:
Single Gene
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Cystic Fibrosis, Congenital Bilateral Absence of the Vas Deferens (CBAVD), CFTR-related hereditary pancreatitis, Bronchiectasis, Mucoviscidosis
Gene/Platform/Region List:
CFTR

Cystic Fibrosis

Category:
Fertility\Reproductive, Respiratory
Sub Category:
Cystic Fibrosis
Lab:
Test type:
Targeted Variant
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Cystic Fibrosis (CF), pancreatic fibrosis, mucoviscidosis, Congenital bilateral absence of vas deferens

Gene/Platform/Region List:

CFTR

Cystinosis

Category:
Renal
Sub Category:
Cystinosis
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Cystinosis, Nephropathic cystinosis, infantile nephropathic type cystinosis, Intermediate cystinosis, adolescent (or juvenile) nephropathic type cystinosis, adult cystinosis, benign cystinosis, ocular cystinosis, non-nephropathic cystinosis, ocular non-nephropathic cystinosis
Gene/Platform/Region List:
CTNS

DICER-associated Syndrome

Category:
Cancer
Sub Category:
DICER-associated Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
DICER-associated Syndrome
Gene/Platform/Region List:
DICER1

DPYD

Category:
Pharmacogenetics
Sub Category:
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Lab:
Test type:
Targeted Variant
Lab/Location:
Dynacare
Disease/Condition:

Dihydropyrimidine dehydrogenase deficiency (DPYD)

Gene/Platform/Region List:

DPYD

DPYD

Category:
Pharmacogenetics
Sub Category:
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Lab:
Test type:
Targeted Variant
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:

Dihydropyrimidine dehydrogenase deficiency, DPYD genotyping, DPYD pharmacogenomics

Gene/Platform/Region List:

DPYD

DPYD Genotyping

Category:
Pharmacogenetics
Sub Category:
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Lab:
Test type:
Targeted Variant
Lab/Location:
North York General Hospital
Disease/Condition:

Pharmacogenetics, Dihydropyrimidine dehydrogenase deficiency (DPYD)

Gene/Platform/Region List:

DPYD (c.1129-5923C>G), DPYD (c.1679T>G), DPYD (c.1905+1G>A), DPYD (c.2846A>T)

DPYD Genotyping

Category:
Pharmacogenetics
Sub Category:
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Lab:
Test type:
Targeted Variant
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria

Gene/Platform/Region List:

DPYD

DPYD Genotyping

Category:
Pharmacogenetics
Sub Category:
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Lab:
Test type:
Targeted Variant
Lab/Location:
Kingston General Hospital
Disease/Condition:

Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria

Gene/Platform/Region List:

DPYD

Deep Vein Thrombosis

Category:
Hematology
Sub Category:
Thrombophilia (Factor II Prothrombin and V Leiden)
Lab:
Test type:
Targeted Variant
Lab/Location:
Kingston General Hospital
Disease/Condition:

Deep Vein Thrombosis (DVT), Thrombophlebitis, Venous thrombosis, Venous thromboembolism (VTE)

Gene/Platform/Region List:

F2, F5

Dysplastic Nevus Syndrome

Category:
Cancer
Sub Category:
Dysplastic Nevus Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Dysplastic Nevus Syndrome
Gene/Platform/Region List:
CDK4, CDKN2A

Dysplastic Nevus Syndrome

Category:
Cancer
Sub Category:
Dysplastic Nevus Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Dysplastic Nevus Syndrome
Gene/Platform/Region List:
CDK4, CDKN2A

Dysplastic Nevus Syndrome

Category:
Cancer
Sub Category:
Dysplastic Nevus Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Dysplastic Nevus Syndrome
Gene/Platform/Region List:
CDK4, CDKN2A

Early Infantile Epilepsy Panel

Category:
Neurogenetics
Sub Category:
Early Infantile Epilepsy
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Epilepsy
Gene/Platform/Region List:
ABAT, ADSL, ALDH7A1, ALG13, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CACNA1E, CAD, CDKL5, CHD2, DCX, DNM1, DOCK7, DYRK1A, EEF1A2, FGF12, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GLDC, GNAO1, GRIN2A, GRIN2B, GRIN2D, HCN1, HNRNPU, ITPA, KCNA1, KCNA2, KCNB1, KCNH5, KCNQ2, KCNQ3, KCNT1, MDH2, MECP2, MEF2C, NGLY1, PCDH19, PIGA, PIGG, PIGN, PIGO, PIGT, PIGV, PLCB1, PNKP, PNPO, POLG, PRRT2, PURA, SCN1A, SCN1B, SCN2A, SCN8A, SLC12A5, SLC13A5, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SPATA5, SPTAN1, ST3GAL5, STX1B, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, UBA5, WDR45, WWOX, YWHAG

FISH Analysis

Category:
Chromosomal Anomalies
Sub Category:
FISH: 22q11.21 Deletion Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:

22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome)

Gene/Platform/Region List:

DiGeorge syndrome (22q11.2/TUPLE1)

FISH: 22q11.21 Deletion Syndrome (DiGeorge)

Category:
Chromosomal Anomalies
Sub Category:
FISH: 22q11.21 Deletion Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome)

Gene/Platform/Region List:

HIRA (TUPLE1), 22q11.21

FISH: Angelman Syndrome (AS)

Category:
Chromosomal Anomalies
Sub Category:
FISH: Angelman/Prader Willi Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Angelman Syndrome (AS)

Gene/Platform/Region List:

SNRPN (15q11.2)

FISH: Cri-du-Chat Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Cri-du-Chat Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Cri-du-Chat Syndrome (Cri-du-Chat Syndrome, CdCS, 5p-, cat's cry syndrome, Lejeune syndrome)

Gene/Platform/Region List:

5p15.2, 5p15.31

FISH: DiGeorge Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: 22q11.21 Deletion Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

DiGeorge Syndrome (22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome))

Gene/Platform/Region List:

22q11.2- HIRA (22q11.2)/ARSA(22q13)

FISH: Disorders of sex development

Category:
Chromosomal Anomalies
Sub Category:
FISH: Disorders of Sex Development
Lab:
Test type:
Cytogenetic
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

X/SRY (Yp11.3) , SHOX (Xp22.3/Yp11.3) Deletions

Gene/Platform/Region List:

centromere (X/SRY (Yp11.3)),SHOX (Xp22.3/Yp11.3)

FISH: Disorders of sex development (SRY/DYZ1/DXZ1)

Category:
Chromosomal Anomalies, Fertility\Reproductive
Sub Category:
FISH: Disorders of Sex Development
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Disorder of sex development (Disorder of sex development (DSD), Variations in Sex Characteristics (VSC), congenital adrenal hyperplasia (CAH), androgen insensitivity syndrome (AIS, Testicular feminization syndrome, DHTR deficiency, Androgen receptor deficiency, Dihydrotestosterone receptor deficiency), Klinefelter syndrome (KS), Turner syndrome (45,X syndrome, Bonnevie-Ullrich syndrome, monosomy X, Ullrich-Turner syndrome), Rokitansky syndrome, Mayer-Rokitansky-Küster-Hauser (MRKH syndrome, congenital absence of the uterus and vagina (CAUV), genital renal ear syndrome (GRES), Mullerian agenesis, Mullerian aplasia, Rokitansky syndrome), 46,XX ovotesticular DSD)

Gene/Platform/Region List:

SRY, Xp11.1-q11.1, Yp11.31, Yq12

FISH: Kallmann Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Kallmann Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Kallmann Syndrome (Kallmann Syndrome, Idiopathic Hypogonadotropic Hypogonadism (IHH), Isolated Hypogonadotropic Hypogonadism (IHH), isolated GnRH deficiency (IGD), Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency)

Gene/Platform/Region List:

KAL1, Xp22.33

FISH: Miller-Dieker syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Miller-Dieker Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Miller-Dieker syndrome (Miller-Dieker syndrome, postaxial acrofacial dysostosis, POADS, Genee-Wiedemann syndrome)

Gene/Platform/Region List:

PAFAH1B1 (LIS1), 17p13.3

FISH: Phelan-McDermid syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Phelan-McDermid Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Phelan-McDermid syndrome (Phelan-McDermid syndrome, 22q13.3 Deletion Syndrome, Chromosome 22q13.3 Deletion Syndrome, Deletion 22q13 Syndrome)

Gene/Platform/Region List:

SHANK3, 22q13.33

FISH: Saethre-Chotzen

Category:
Chromosomal Anomalies
Sub Category:
FISH: Saethre-Chotzen Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Saethre-Chotzen (Saethre-Chotzen Syndrome, Acrocephalosyndactyly Type III (ACS3), Chotzen syndrome, Blepharophimosis,epicanthus inversus, and ptosis 3)

Gene/Platform/Region List:

TWIST1, 7p21.2

FISH: Smith-Magenis Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Smith-Magenis Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Smith-Magenis Syndrome, Microdeletion 22q11.2 Syndrome

Gene/Platform/Region List:

RAI1(17p11,.2)/LIS1(17p13.3)

FISH: Smith-Magenis syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Smith-Magenis Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)

Gene/Platform/Region List:

RAI1, 17p11.2

FISH: Sotos syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Sotos Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Sotos syndrome (Sotos syndrome, cerebral gigantism)

Gene/Platform/Region List:

NSD1, 5q35

FISH: Steroid Sulfatase Deficiency

Category:
Chromosomal Anomalies
Sub Category:
FISH: Steroid Sulfatase Deficiency
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Steroid Sulfatase Deficiency (X-Linked Ichthyosis, Steroid Sulfatase Deficiency (SSD), Steroid sulfatase deficiency disease (SSDD), Placental steroid sulfatase deficiency)

Gene/Platform/Region List:

STS, Xp11.31

FISH: Williams Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Williams Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Williams Syndrome, 7q11.23 Deletion

Gene/Platform/Region List:

7q11.23/7q31

FISH: Williams syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Williams Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Williams syndrome (Williams syndrome (WS), Williams-Beuren Syndrome (WBS), idiopathic infantile hypercalcemia (IHC), supravalvular aortic stenosis syndrome (SASS), Williams elfin facies syndrome, Beuren Syndrome, Elfin Facies with Hypercalcemia, Hypercalcemia-Supravalvar Aortic Stenosis, Early Hypercalcemia Syndrome with Elfin Facies)

Gene/Platform/Region List:

ELN, 7q11.23

FISH: Wolf-Hirschhorn Syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Wolf-Hirschhorn Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Wolf-Hirschhorn Syndrome, 4p- Syndrome

Gene/Platform/Region List:

4p14.3/centromere 4

FISH: Wolf-Hirschhorn syndrome

Category:
Chromosomal Anomalies
Sub Category:
FISH: Wolf-Hirschhorn Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Wolf-Hirschhorn syndrome (Wolf-Hirschhorn syndrome (WHS), 4p- syndrome, Pitt-Rogers-Danks syndrome (PRDS), monosomy 4p)

Gene/Platform/Region List:

WHSCR, 4p16.3

Fabry Disease

Category:
Metabolic
Sub Category:
Fabry Disease
Lab:
Test type:
Single Gene
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
GLA deficiency, Alpha-Galactosidase A deficiency, Anderson-Fabry disease, Angiokeratoma Corporis Diffusum, Ceramide Trihexosidase deficiency, Hereditary dystopic lipidosis
Gene/Platform/Region List:
GLA

Facioscapulohumeral Muscular Dystrophy

Category:
Neurogenetics
Sub Category:
Facioscapulohumeral Muscular Dystrophy
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Facioscapulohumeral Muscular Dystrophy (FSHD), FSH Muscular Dystrophy, scapulo-humeral syndromes, scapulo-peroneal syndromes, Landouzy-Dejerine muscular dystrophy

Gene/Platform/Region List:

4q35

Factor II/Factor V

Category:
Limited Access
Sub Category:
Thrombophilia (Factor II Prothrombin and V Leiden)
Lab:
Test type:
Targeted Variant
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Prothrombin deficiency, Prothrombin Thrombophilia, F2-related thrombophilia, factor II-related thrombophilia, prothrombin 20210G>A thrombophilia, FII, factor V leiden deficiency, factor V leiden thrombophilia, FV

Gene/Platform/Region List:

F2, F5

Factor V Leiden

Category:
Hematology
Sub Category:
Thrombophilia (Factor V Leiden)
Lab:
Test type:
Targeted Variant
Lab/Location:
North York General Hospital
Disease/Condition:

Factor V Leiden Thrombophilia, Hereditary Resistance to Activated Protein C

Gene/Platform/Region List:

F5 (c.1601G>A)

Factor V Leiden

Category:
Hematology
Sub Category:
Thrombophilia (Factor V Leiden)
Lab:
Test type:
Targeted Variant
Lab/Location:
St. Michael’s Hospital
Disease/Condition:

Factor V Leiden Thrombophilia, Hereditary Resistance to Activated Protein C

Gene/Platform/Region List:

F5

Factor V Leiden & Factor II Prothrombin

Category:
Hematology
Sub Category:
Thrombophilia (Factor II Prothrombin and V Leiden)
Lab:
Test type:
Targeted Variant
Lab/Location:
Mount Sinai Hospital
Disease/Condition:

Prothrombin deficiency, Prothrombin Thrombophilia, F2-related thrombophilia, factor II-related thrombophilia, prothrombin 20210G>A thrombophilia, FII, factor V leiden deficiency, factor V leiden thrombophilia, FV

Gene/Platform/Region List:

F2 (c.*97G>A), F5 (c.1601G>A)

Factor V Leiden Thrombophilia

Category:
Hematology
Sub Category:
Thrombophilia (Factor V Leiden)
Lab:
Test type:
Targeted Variant
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Factor V Leiden Thrombophilia, Hereditary Resistance to Activated Protein C

Gene/Platform/Region List:

F5

Familial GI Cancer (Lynch syndrome, Gastric, Pancreas, Polyposis)

Category:
Cancer
Sub Category:
Hereditary Gastrointestinal Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Gastrointestinal Cancer, Lynch syndrome, Gastric cancer, Pancreas cancer, Polyposis
Gene/Platform/Region List:
APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

Familial Gastrointestinal Stromal Panel

Category:
Cancer
Sub Category:
Familial Gastrointestinal Stromal (GIST)
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Familial Gastrointestinal Stromal (GIST)
Gene/Platform/Region List:
KIT, PDGFRA, SDHA, SDHAF2, SDHB, SDHC, SDHD

Familial Gastrointestinal Stromal Tumour

Category:
Cancer
Sub Category:
Familial Gastrointestinal Stromal (GIST)
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Familial Gastrointestinal Stromal (GIST)
Gene/Platform/Region List:
KIT, PDGFRA, SDHA, SDHAF2, SDHB, SDHC, SDHD

Familial Gastrointestinal Stromal Tumour

Category:
Cancer
Sub Category:
Familial Gastrointestinal Stromal (GIST)
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Familial Gastrointestinal Stromal (GIST)
Gene/Platform/Region List:
KIT, PDGFRA, SDHA, SDHAF2, SDHB, SDHC, SDHD

Familial Hypercholesterolemia

Category:
Endocrinology
Sub Category:
Familial Hypercholesterolemia
Lab:
Test type:
Gene Panel
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:
Familial Hypercholesterolemia (FH), Dyslipidemia
Gene/Platform/Region List:
ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9

Familial Hypercholesterolemia

Category:
Endocrinology
Sub Category:
Familial Hypercholesterolemia
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Familial Hypercholesterolemia (FH), Dyslipidemia
Gene/Platform/Region List:
ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9

Familial Melanoma

Category:
Cancer
Sub Category:
Familial Melanoma
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Familial Melanoma
Gene/Platform/Region List:
BAP1, BRCA2, CDK4, CDKN2A, MITF (E318K), POT1, PTEN

Familial Melanoma

Category:
Cancer
Sub Category:
Familial Melanoma
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Familial Melanoma
Gene/Platform/Region List:
BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN

Familial Melanoma

Category:
Cancer
Sub Category:
Familial Melanoma
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Melanoma
Gene/Platform/Region List:
BAP1, BRCA2, CDK4, CDKN2A, MITF (E318K), POT1, PTEN

Familial Melanoma Panel

Category:
Cancer
Sub Category:
Familial Melanoma
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Familial Melanoma
Gene/Platform/Region List:
BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN

Familial Melanoma Panel

Category:
Cancer
Sub Category:
Familial Melanoma
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Familial Melanoma
Gene/Platform/Region List:
BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN

Familial Renal Cancer

Category:
Cancer
Sub Category:
Hereditary Renal Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:
Von Hippel-Lindau Syndrome, BAP1 Tumour Predisposition Syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, PTEN Hamartoma Tumour Syndrome, Li-Fraumeni Syndrome, Renal Cell Carcinoma, Tuberous Sclerosis
Gene/Platform/Region List:
BAP1, FH, FLCN, MET, MITF (E318K), PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

Familial Renal Cancer

Category:
Cancer
Sub Category:
Hereditary Renal Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Familial Renal Cancer
Gene/Platform/Region List:
BAP1, FH, FLCN, MET, MITF (E318K), PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

Familial Renal Cancer

Category:
Cancer
Sub Category:
Hereditary Renal Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Von Hippel-Lindau Syndrome, BAP1 Tumour Predisposition Syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, PTEN Hamartoma Tumour Syndrome, Li-Fraumeni Syndrome, Renal Cell Carcinoma, Tuberous Sclerosis
Gene/Platform/Region List:
BAP1, FH, FLCN, MET, MITF, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

Familial Renal Cancer

Category:
Cancer
Sub Category:
Hereditary Renal Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Renal Cancer, Von Hippel-Lindau Syndrome, BAP1 Tumour Predisposition Syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, PTEN
Gene/Platform/Region List:
BAP1, FH, FLCN, MET, MITF (E318K), PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

Familial Renal Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Comprehensive Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Von Hippel-Lindau Syndrome, BAP1 Tumour Predisposition Syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, PTEN Hamartoma Tumour Syndrome, Li-Fraumeni Syndrome, Renal Cell Carcinoma, Tuberous Sclerosis
Gene/Platform/Region List:
BAP1, FH, FLCN, MET, MITF, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

Familial Renal Panel

Category:
Cancer
Sub Category:
Hereditary Renal Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Von Hippel-Lindau Syndrome, BAP1 Tumour Predisposition Syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, PTEN Hamartoma Tumour Syndrome, Li-Fraumeni Syndrome, Renal Cell Carcinoma, Tuberous Sclerosis
Gene/Platform/Region List:
BAP1, FH, FLCN, MET, MITF, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL

Familial Soft Tissue Cancers

Category:
Cancer
Sub Category:
Hereditary Soft Tissue Sarcomas
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Soft Tissue Sarcoma
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

Fatty Acid Oxidation Diseases: Other

Category:
Metabolic
Sub Category:
Fatty Acid Oxidation Diseases
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Acetyl-CoA transferase, Mitochondrial Complex I Deficiency, Nuclear Type 20, LCAD, SCAD, Enoyl-CoA Hydratase Deficiency, Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD).
Gene/Platform/Region List:
ACAA2, ACAD9, ACADL, ACADS, ECHS1, HADH

Focal Epilepsy Panel

Category:
Neurogenetics
Sub Category:
Focal Epilepsy
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Epilepsy
Gene/Platform/Region List:
CHRNA4, CHRNB2, DEPDC5, GRIN2A, KCNT1, LGI1, NPRL2, NPRL3, PRRT2, SCN1A, SCN1B, SLC2A1

Fragile X (FMR1 gene)

Category:
Neurodevelopmental
Sub Category:
Fragile X Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
FRAXA syndrome, Fragile X Tremor Ataxia syndrome, FXTAS, FMR1-related primary ovarian insufficiency
Gene/Platform/Region List:
FMR1

Fragile X (FMR1 gene)

Category:
Neurodevelopmental
Sub Category:
Fragile X Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
Fragile X syndrome (FXS), fragile X mental retardation, marker X syndrome, Martin-Bell syndrome, Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary Ovarian Insufficiency (FXPOI), FMR1-related premature ovarian failure, FMR1 primary ovarian insufficiency
Gene/Platform/Region List:
FMR1

Fragile X E (FMR2 gene)

Category:
Neurodevelopmental
Sub Category:
Fragile X Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Fragile X E (FRAXE), FRAXE syndrome; Fragile site, folic acid type; X-linked intellectual disability associated with fragile site FRAXE
Gene/Platform/Region List:
AFF2 (FMR2)

Fragile X Syndrome

Category:
Neurodevelopmental
Sub Category:
Fragile X Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Kingston General Hospital
Disease/Condition:
Fragile X syndrome (FXS), fragile X mental retardation, marker X syndrome, and Martin-Bell syndrome, Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary Ovarian Insufficiency (FXPOI), FMR1-related premature ovarian failure, FMR1 primary ovarian insufficiency
Gene/Platform/Region List:
FMR1

Friedreich's Ataxia (FRDA)

Category:
Neurogenetics
Sub Category:
Friedreich's Ataxia (FRDA)
Lab:
Test type:
Single Gene
Lab/Location:
North York General Hospital
Disease/Condition:
Friedreich's Ataxia (FRDA)
Gene/Platform/Region List:
FXN (GAA repeats)

Full mitochondrial nuclear gene panel

Category:
Mitochondrial
Sub Category:
Mitochondrial nuclear gene
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Nuclear mitochondrial related diseases
Gene/Platform/Region List:
AARS2, ABAT, ABCB7, ACACB, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACLY, ACO2, ACSL5, ACSM3, ADAR, ADSL, AFG3L2, AGK, AGL, AGXT2, AIFM1, AK2, AKAP10, AKR7A2, ALDH18A1, ALDH1B1, ALDH5A1, ALDH6A1, ALDH7A1, ALG3, AMPD1, AMT, ANTXR1, AS3MT, ATIC, ATP1A3, ATP10D, ATP5F1A, ATP5F1B, ATP5F1C, ATP5F1D, ATP5F1E, ATP5MC1, ATP5MC2, ATP5MC3, ATP5ME, ATP5MF, ATP5MG, ATP5MGL, ATP5PO, ATP5PB, ATP5PD, ATP5PF, ATPAF1, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, C1QBP, C19orf12, CA5A, CARS2, CCDC88A, CEP89, CHCHD10, CHDH, CHKB, CISD2, CLN3, CLPB, CLPP, CLYBL, COA1, COA3, COA4, COA5, COA6, COA7, COA8, COASY, COMT, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11, COX14, COX15, COX16, COX17, COX18, COX19, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6A2, COX6B1, COX6B2, COX6C, COX7A1, COX7A2, COX7B, COX7C, COX8A, CPT1A, CPT1B, CPT2, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, D2HGDH, DARS2, DBT, DDAH1, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNAJC30, DNM1L, DNMT1, EARS2, ECHS1, ELAC2, ERAL1, ETFA, ETFB, ETFDH, ETHE1, FA2H, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, FXN, GAA GARS1, GATB, GATC, GATM, GBE1, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GLS, GTPBP3, GYG2, GYS1, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPA9, HSPD1, IARS2, IBA57, IDH2, IDH3A, IDH3B, ISCA1, ISCA2, ISCU, IVD, KARS1, KIF5A, KIF21A, KLC2, KYNU, L2HGDH, LARS1, LARS2, LDHA, LIAS, LIPT1, LIPT2, LMBRD1, LONP1, LPIN1, LRPPRC, LYRM4, LYRM7, MARS2, MCEE, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS22, MRPS23, MRPS34, MRPS7, MTFMT, MTO1, MTPAP, MTRFR, MTRR, MMUT, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA5, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFAF8 (C17ORF89), NDUFB1, NDUFB6, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NR2F1, NSUN3, NUBPL, OPA1, OPA3, OXA1L, OXCT1, PANK2, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PET117, PFKM, PGAM2, PGM1, PHKA1, PHKB, PHOX2A, PITRM1, PLA2G6, PLP1, PMPCA, PMPCB, PNPLA8, PNPT1, POLG, POLG2, PPA2, PRPS1, PTCD3, PTS, PUS1, PYGM, QARS1, QDPR, QRSL1, RARS1, RARS2, RMND1, RNASEH1, ROBO3, RRM2B, RTN4IP1, SACS, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHAF3, SDHAF4, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A19, SLC25A20, SLC25A21, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC52A2, SLC52A3, SNX10, SPATA5, SPG7, SPR, STAR, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TAFAZZIN, TARS2, TCIRG1, TCN2, TIMM22, TIMM44, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM65, TMEM70, TOMM20, TOP3A, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUBB4A, TUFM, TUSC3, TWNK, TXN2, TYMP, UCHL1, UNG, UQCC1, UQCC2, UQCC3, UQCR10, UQCR11 , UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, VARS2, WARS2, WDR73, WFS1, YARS2, YME1L1

GALT deficiency

Category:
Metabolic
Sub Category:
Galactosemia
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Galactosemia
Gene/Platform/Region List:
GALT

GAMT deficiency

Category:
Metabolic
Sub Category:
Organic Acid Disorders
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
GAMT deficiency
Gene/Platform/Region List:
GAMT

Galactose-1-Phosphate Uridyl Transferase Deficiency

Category:
Metabolic
Sub Category:
Galactose-1-Phosphate Uridyl Transferase Deficiency
Lab:
Test type:
Single Gene
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:
Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)
Gene/Platform/Region List:
GALT

Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)

Category:
Metabolic
Sub Category:
Galactosemia
Lab:
Test type:
Targeted Variant
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)

Gene/Platform/Region List:

GALT (N314D, Q188R)

Galactosemia: Other

Category:
Metabolic
Sub Category:
Galactosemia
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)
Gene/Platform/Region List:
GALE, GALK1, GALM, GLUT2 (SLC2A2)

Gastric Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Gastric Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:
Gastric Cancer
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

Gastric Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Gastric Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Gastric Cancer
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

General Comprehensive Hereditary Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Comprehensive Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Comprehensive Cancer Panel (76 genes)
Gene/Platform/Region List:
AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

Genetics - microarray-prenatal, whole genome

Category:
Chromosomal Anomalies, Fertility\Reproductive
Sub Category:
Microarray: Microduplication/deletion Syndrome- Prenatal
Lab:
Test type:
Cytogenetic
Lab/Location:
North York General Hospital
Disease/Condition:

Abnormal prenatal screening, Abnormal ultrasound findings, Multiple congenital anomalies, Advanced maternal age

Gene/Platform/Region List:

Genome

Glutaric Aciduria Type 1

Category:
Metabolic
Sub Category:
Organic Acid Disorders
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Glutaric Aciduria type I (GA-1), GCDH Deficiency, Glutaric Aciduria Type 1, Glutaryl-CoA Dehydrogenase Deficiency
Gene/Platform/Region List:
GCDH

Glutaric Aciduria type I (GCDH gene)

Category:
Metabolic
Sub Category:
Glutaric Aciduria type I
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Glutaric Aciduria type I (GA-1), GCDH Deficiency, Glutaric Aciduria Type 1, Glutaryl-CoA Dehydrogenase Deficiency
Gene/Platform/Region List:
GCDH

HCT Full Panel (76 Genes)

Category:
Cancer
Sub Category:
Hereditary Comprehensive Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Hereditary Cancer Full Panel (76 Genes)
Gene/Platform/Region List:
AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

Haemochromatosis

Category:
Hematology
Sub Category:
Hereditary Hemochromatosis
Lab:
Test type:
Targeted Variant
Lab/Location:
North York General Hospital
Disease/Condition:

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis

Gene/Platform/Region List:

HFE (c.187C>G), HFE (c.845G>A)

Hemochromatosis

Category:
Hematology
Sub Category:
Hereditary Hemochromatosis
Lab:
Test type:
Targeted Variant
Lab/Location:
Kingston General Hospital
Disease/Condition:

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

Gene/Platform/Region List:

HFE (p.Cys282Tyr), HFE (p.His63Asp)

Hemochromatosis

Category:
Hematology
Sub Category:
Hereditary Hemochromatosis
Lab:
Test type:
Targeted Variant
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

Gene/Platform/Region List:

HFE

Hemochromatosis Genotype

Category:
Hematology
Sub Category:
Hereditary Hemochromatosis
Lab:
Test type:
Targeted Variant
Lab/Location:
Mount Sinai Hospital
Disease/Condition:

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

Gene/Platform/Region List:

HFE (c.187C>G), HFE (c.845G>A)

Hemoglobin Variants

Category:
Fertility\Reproductive, Hematology
Sub Category:
Hemoglobin Diseases
Lab:
Test type:
Gene Panel
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:
Thalassemia, Hemoglobin Variant, Sickle Cell Disease
Gene/Platform/Region List:
HBA1, HBB, HBD, HBG1, HBG2

Herditary Polyposis Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Polyposis Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
hereditary colorectal cancer, colon cancer
Gene/Platform/Region List:
APC, BMPR1A, EPCAM, GALNT12, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53

Hereditary Breast/ Ovarian/ Prostate Cancer

Category:
Cancer
Sub Category:
Hereditary Breast, Ovarian, Prostate Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Breast Cancer, Ovarian Cancer, Prostate Cancer
Gene/Platform/Region List:
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

Hereditary Breast/ Ovarian/ Prostate/ Gastrointestinal Cancer

Category:
Cancer
Sub Category:
Hereditary Comprehensive Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Breast Cancer, Ovarian Cancer, Prostate Cancer, GI Cancer
Gene/Platform/Region List:
APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, HOXB13, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

Hereditary Breast/ Ovarian/ Prostate/ Melanoma Cancer

Category:
Cancer
Sub Category:
Hereditary Comprehensive Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Breast Cancer, Ovarian Cancer, Prostate Cancer, Melanoma
Gene/Platform/Region List:
ATM, BAP1, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, HOXB13, MITF , MLH1, MSH2, MSH6, PALB2, PMS2, POT1, PTEN, RAD51C, RAD51D, STK11, TP53

Hereditary Breast/Ovarian & Prostate Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Breast, Ovarian, Prostate Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Breast Cancer, Ovarian Cancer, Prostate Cancer
Gene/Platform/Region List:
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

Hereditary Breast/Ovarian/Prostate Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Breast, Ovarian, Prostate Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Breast Cancer, Ovarian Cancer, Prostate Cancer
Gene/Platform/Region List:
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

Hereditary Breast/Ovarian/Prostate Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Breast, Ovarian, Prostate Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Breast Cancer, Ovarian Cancer, Prostate Cancer
Gene/Platform/Region List:
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

Hereditary Breast/Ovarian/Prostate Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Breast, Ovarian, Prostate Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Breast Cancer, Ovarian Cancer, Prostate Cancer
Gene/Platform/Region List:
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13 (G84E), MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

Hereditary Breast/Ovarian/Prostate/GI Cancer

Category:
Cancer
Sub Category:
Hereditary Breast, Ovarian, Prostate, GI Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Hereditary Breast, Ovarian, Prostate, GI Cancer
Gene/Platform/Region List:
APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, HOXB13 (G84E), MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

Hereditary CNS Panel

Category:
Cancer
Sub Category:
Hereditary Central Nervous System (CNS) Tumours
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Central Nervous System Gene Panel, Neurofibromatosis type 1, Schwannomatosis, Familial adenomatous polyposis, Lynch Syndrome Panel, Von Hippel-Lindau Syndrome
Gene/Platform/Region List:
APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

Hereditary Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Comprehensive Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:
Hereditary Cancer, Breast Cancer, Lynch Syndrome, Hereditary gastrointestinal (GI), pancreatic adenocarcinoma, colon cancer, germline genetic testing, FM, familial, HCT
Gene/Platform/Region List:
AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

Hereditary Cancer Panel: Hereditary Breast/ Ovarian/ Prostate (HBOPC)

Category:
Cancer
Sub Category:
Breast, Ovarian, Prostate
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
Hereditary Breast Cancer, Hereditary Ovarian Cancer, Hereditary Prostate Cancer
Gene/Platform/Region List:
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13 (c.251G>A), MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

Hereditary Central Nervous System Tumour

Category:
Cancer
Sub Category:
Hereditary Central Nervous System (CNS) Tumours
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Central Nervous System Gene Panel, Neurofibromatosis type 1, Schwannomatosis, Familial adenomatous polyposis, Lynch Syndrome Panel, Von Hippel-Lindau Syndrome
Gene/Platform/Region List:
APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2

Hereditary Central Nervous System Tumour

Category:
Cancer
Sub Category:
Hereditary Central Nervous System (CNS) Tumours
Lab:
Test type:
Gene Panel
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:
Central Nervous System Gene Panel, Neurofibromatosis type 1, Schwannomatosis, Familial adenomatous polyposis, Lynch Syndrome Panel, Von Hippel-Lindau Syndrome
Gene/Platform/Region List:
APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

Hereditary Central Nervous System Tumours

Category:
Cancer
Sub Category:
Hereditary Central Nervous System (CNS) Tumours
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Central Nervous System Gene Panel, Neurofibromatosis type 1, Schwannomatosis, Familial adenomatous polyposis, Lynch Syndrome Panel, Von Hippel-Lindau Syndrome
Gene/Platform/Region List:
APC, EPCAM, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POLE, POT1, PTCH1, PTEN, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

Hereditary Comprehensive Panel

Category:
Cancer
Sub Category:
Hereditary Comprehensive Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Comprehensive Cancer Panel (76 genes)
Gene/Platform/Region List:
AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

Hereditary Endometrial Cancer

Category:
Cancer
Sub Category:
Hereditary Endometrial Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Endometrial Cancer
Gene/Platform/Region List:
BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN

Hereditary Endometrial Cancer

Category:
Cancer
Sub Category:
Hereditary Endometrial Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Endometrial Cancer
Gene/Platform/Region List:
BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN

Hereditary Endometrial Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Endometrial
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Endometrial Cancer
Gene/Platform/Region List:
BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN

Hereditary Endometrial Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Endometrial Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Endometrial Cancer
Gene/Platform/Region List:
BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN

Hereditary Endometrial Panel

Category:
Cancer
Sub Category:
Hereditary Endometrial
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Endometrial Cancer
Gene/Platform/Region List:
BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE, PTEN

Hereditary GI (Lynch syndrome, Gastric, Pancreas, Polyposis) Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Gastrointestinal Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Gastrointestinal Cancer, Lynch syndrome, Gastric, Pancreas, Polyposis
Gene/Platform/Region List:
APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

Hereditary GI (Lynch syndrome, Gastric, Pancreas, Polyposis) Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Gastrointestinal Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:
Gastrointestinal Cancer, Lynch syndrome, Gastric, Pancreas, Polyposis
Gene/Platform/Region List:
APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

Hereditary GI Panel

Category:
Cancer
Sub Category:
Hereditary Gastrointestinal Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Gastrointestinal Cancer
Gene/Platform/Region List:
APC,ATM,BMPR1A,BRCA1,BRCA2,CDH1,CDKN2A,CHEK2,CTNNA1,EPCAM,GALNT12,GREM1,MLH1,MSH2,MSH3,MSH6,MUTYH,NTHL1,PALB2,PMS2,POLD1,POLE,PTEN,RNF43,RPS20,SDHB,SDHD,SMAD4,STK11,TP53

Hereditary Gastric Cancer

Category:
Cancer
Sub Category:
Hereditary Gastric Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Gastric Cancer
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

Hereditary Gastric Cancer

Category:
Cancer
Sub Category:
Hereditary Gastric Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Gastric Cancer
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

Hereditary Gastric Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Gastric Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Gastric Cancer
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

Hereditary Gastric Panel

Category:
Cancer
Sub Category:
Hereditary Gastric Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Gastric Cancer
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, SDHB, SDHD, SMAD4, STK11, TP53

Hereditary Gastrointestinal Cancer (Lynch Syndrome, Gastric, Pancreas, Polyposis)

Category:
Cancer
Sub Category:
Hereditary Gastrointestinal Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Gastrointestinal Cancer, Lynch syndrome, Gastric, Pancreas, Polyposis
Gene/Platform/Region List:
APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

Hereditary Gastrointestinal Panel

Category:
Cancer
Sub Category:
Hereditary Gastrointestinal Cancer
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Gastrointestinal Cancer
Gene/Platform/Region List:
APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, CTNNA1, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SDHB, SDHD, SMAD4, STK11, TP53

Hereditary Hearing Loss: Common and Non-Syndromic Hearing Loss Panel

Category:
Audiology
Sub Category:
Common and Non-Syndromic Hearing Loss
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Common and Non-Syndromic Hearing Loss
Gene/Platform/Region List:
ACTG1, ADGRV1, CDH23, CHD7, CLDN14, COCH, DFNA5, DFNB59, DIAPH1, ESPN, ESRRB, EYA1, EYA4, GIPC3, GJB2, GJB6, GPSM2, GRHL2, GRXCR1, HGF, ILDR1, KCNE1, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, OTOG, OTOGL, PCDH15, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8, SLC26A4, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH2A, WFS1

Hereditary Hearing Loss: Syndromic Hearing Loss

Category:
Audiology
Sub Category:
Syndromic Hearing Loss
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Treacher Collins syndrome, Waardenburg syndrome, Norrie syndrome, Alport syndrome
Gene/Platform/Region List:
COL4A3, COL4A4, COL4A5, EDN3, EDNRB, MITF, NDP, PAX3, SOX10, TCOF1

Hereditary Hemochromatosis

Category:
Hematology
Sub Category:
Hereditary Hemochromatosis
Lab:
Test type:
Targeted Variant
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

Gene/Platform/Region List:

HFE (p.Cys282Tyr), HFE (p.His63Asp), HFE (p.Ser65Cys)

Hereditary Hemochromatosis

Category:
Hematology
Sub Category:
Hereditary Hemochromatosis
Lab:
Test type:
Targeted Variant
Lab/Location:
University Health Network
Disease/Condition:

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

Gene/Platform/Region List:

HFE (p.Cys282Tyr), HFE (p.His63Asp)

Hereditary Hemochromatosis

Category:
Hematology, Limited Access
Sub Category:
Hereditary Hemochromatosis
Lab:
Test type:
Targeted Variant
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

Gene/Platform/Region List:

HFE (p.Cys282Tyr), HFE (p.His63Asp)

Hereditary Hemolytic Anemia Panel

Category:
Hematology
Sub Category:
Hereditary Anemia
Lab:
Test type:
Gene Panel
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:
Hereditary Hemolytic Anemia, Hereditary spherocytosis (HS), Hereditary elliptocytosis (HE), hereditary pyropoikilocytosis (HPP), Dehydrated hereditary stomatocytosis (xerocytosis), RBC Enzymopathies, Hemoglobinopathies
Gene/Platform/Region List:
ADD2, AHSP, AK1, ALDOA, ANK1, CDAN1, CDIN1, CYB5R3, DMTN, ENO1, EPB41, EPB42, G6PD, GATA1, GCLC, GPI, GPX1, GSR, GSS, HBA1, HBA2, HBB, HK1, KIF23, KLF1, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, SEC23B, SLC4A1, SPTA1, SPTB, STOM, TPI1

Hereditary Hyperparathyroidism

Category:
Cancer
Sub Category:
Hereditary Hyperparathyroidism
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Familial isolated hyperparathyroidism, Hyperparathyroidism
Gene/Platform/Region List:
CDC73, MEN1

Hereditary Hyperparathyroidism

Category:
Endocrinology
Sub Category:
Hereditary Hyperparathyroidism
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Familial isolated hyperparathyroidism, Hyperparathyroidism
Gene/Platform/Region List:
CDC73, MEN1

Hereditary Hyperparathyroidism

Category:
Cancer
Sub Category:
Hereditary Hyperparathyroidism
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Familial isolated hyperparathyroidism, Hyperparathyroidism
Gene/Platform/Region List:
CDC73, MEN1

Hereditary Hyperparathyroidism

Category:
Cancer
Sub Category:
Hereditary Hyperparathyroidism
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Familial isolated hyperparathyroidism, Hyperparathyroidism
Gene/Platform/Region List:
CDC73, MEN1

Hereditary Hyperparathyroidism

Category:
Cancer
Sub Category:
Hereditary Hyperparathyroidism
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Familial isolated hyperparathyroidism, Hyperparathyroidism
Gene/Platform/Region List:
CDC73, MEN1

Hereditary Lung Cancer

Category:
Cancer
Sub Category:
Hereditary Lung Cancer
Lab:
Test type:
Targeted Variant
Lab/Location:
North York General Hospital
Disease/Condition:

Hereditary Lung Cancer

Gene/Platform/Region List:

EGFR (T790M), EGFR (V769M), EGFR (V834I)

Hereditary Lung Cancer

Category:
Cancer
Sub Category:
Hereditary Lung Cancer
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Hereditary Lung Cancer
Gene/Platform/Region List:
EGFR

Hereditary Lung Cancer

Category:
Cancer
Sub Category:
Hereditary Lung Cancer
Lab:
Test type:
Single Gene
Lab/Location:
Kingston General Hospital
Disease/Condition:
Hereditary Lung Cancer
Gene/Platform/Region List:
EGFR

Hereditary Lung Cancer

Category:
Cancer
Sub Category:
Hereditary Lung Cancer
Lab:
Test type:
Targeted Variant
Lab/Location:
University Health Network
Disease/Condition:

Hereditary Lung Cancer

Gene/Platform/Region List:

EGFR (T790M), EGFR (V769M), EGFR (V834I)

Hereditary Pancreatic Cancer

Category:
Cancer
Sub Category:
Hereditary Pancreatic Cancer (Adenocarcinoma)
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Pancreatic Cancer
Gene/Platform/Region List:
ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

Hereditary Pancreatic Cancer

Category:
Cancer
Sub Category:
Hereditary Pancreatic Cancer (Adenocarcinoma)
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Pancreatic Cancer, Adenocarcinoma
Gene/Platform/Region List:
ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

Hereditary Pancreatic Panel

Category:
Cancer
Sub Category:
Hereditary Pancreatic Cancer (Adenocarcinoma)
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Pancreatic Cancer, Adenocarcinoma
Gene/Platform/Region List:
ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

Hereditary Pheochromocytoma and Paraganglioma

Category:
Cancer
Sub Category:
Hereditary Pheochromocytoma and Paraganglioma
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Pheochromocytoma, Paraganglioma
Gene/Platform/Region List:
FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

Hereditary Polyposis

Category:
Cancer
Sub Category:
Hereditary Polyposis Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
hereditary colorectal cancer, colon cancer
Gene/Platform/Region List:
EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53, APC, BMPR1A

Hereditary Polyposis Panel

Category:
Cancer
Sub Category:
Hereditary Polyposis Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
hereditary colorectal cancer, colon cancer
Gene/Platform/Region List:
APC, BMPR1A, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53

Hereditary Soft Tissue Carcinoma Panel

Category:
Cancer
Sub Category:
Hereditary Soft Tissue Sarcomas
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Soft Tissue Carcinoma
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

Hereditary Soft Tissue Tumour

Category:
Cancer
Sub Category:
Hereditary Soft Tissue Sarcomas
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Soft Tissue Sarcoma
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

Hereditary Spastic Paraplegia: Comprehensive

Category:
Neurogenetics
Sub Category:
Hereditary Spastic Paraplegia
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Hereditary Spastic Paraplegia
Gene/Platform/Region List:
ABCD1, ADAR, ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, ATP13A2, B4GALNT1, BSCL2, C19orf12, CAPN1, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, GBA2, HACE1, HPDL, HSPD1, IBA57, IFIH1, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, MAG, MTRFR, NIPA1, NT5C2, PCYT2, PLP1, PNPLA6, POLG, POLR3A, POLR3B, REEP1, REEP2, RNF170, RTN2, SACS, SELENOI, SETX, SLC16A2, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TUBB4A, UBAP1, UCHL1, VPS13D, WASHC5, ZFYVE26

Hereditary Thrombophilia

Category:
Hematology
Sub Category:
Thrombophilia (Factor II Prothrombin and V Leiden)
Lab:
Test type:
Targeted Variant
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:

prothrombin deficiency, Prothrombin Thrombophilia, F2-related thrombophilia, factor II-related thrombophilia, prothrombin 20210G>A thrombophilia, FII, factor V leiden deficiency, factor V leiden thrombophilia, FV

Gene/Platform/Region List:

F2 (c.*97G>A), F5 (c.1601G>A)

Homocystinuria

Category:
Metabolic
Sub Category:
Amino Acid Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Adenosine Kinase Deficiency, SAH Deficiency, Cystathionine Beta-Synthase Deficiency, Homocystinuria, Glycine N-Methyltransferase Deficiency, MAT Deficiency, Citrin Deficiency, Methylenetetrahydrofolate Reductase Deficiency, CblE, CblG
Gene/Platform/Region List:
ADK, AHCY, CBS, GNMT, MAT1A, SLC25A13, MTHFR, MTR, MTRR

Huntington Disease (HD)

Category:
Neurogenetics
Sub Category:
Huntington Disease (HD)
Lab:
Test type:
Single Gene
Lab/Location:
North York General Hospital
Disease/Condition:
Huntington Disease (HD)
Gene/Platform/Region List:
HTT (CAG repeats)

Hydroxyglutaric Aciduria

Category:
Mitochondrial
Sub Category:
Mitochondrial nuclear gene
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Hydroxyglutaric Aciduria, Isocitrate Dehydrogenase Type 2 Deficiency, Combined Hydroxyglutaric Aciduria
Gene/Platform/Region List:
L2HGDH, D2HGDH, IDH2, SLC25A1

Isovaleric acidemia

Category:
Metabolic
Sub Category:
Organic Acid Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Isovaleric acidemia, isovaleric acid CoA dehydrogenase deficiency, IVA
Gene/Platform/Region List:
ACADSB, FLAD1, IVD

Karyotype

Category:
Chromosomal Anomalies, Fertility\Reproductive
Sub Category:
Chromosomal Anomalies
Lab:
Test type:
Cytogenetic
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Suspected aneuploidy, Recurrent Miscarriage (>=3), Amenorrhea, Ambiguous genitalia, Infertility, Short Stature, Stillbirth, Klinefelter Syndrome, Neonatal Death

Karyotype, GTG-banding

Category:
Chromosomal Anomalies
Sub Category:
Chromosomal Anomalies
Lab:
Test type:
Cytogenetic
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Ambiguous genitalia, Amenorrhea, Azoospermia/Oligospermia, Klinefelter syndrome, Premature/early menopause, Premature ovarian insufficiency, Recurrent pregnancy loss (≥3), Short stature, Turner syndrome

Gene/Platform/Region List:

All Chromosomes

LCHAD/MTP deficiency

Category:
Metabolic
Sub Category:
Fatty Acid Oxidation Diseases
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD), Mitochondrial trifunctional protein deficiency (MTP)
Gene/Platform/Region List:
HADHA, HADHB

Li-Fraumeni

Category:
Cancer
Sub Category:
Li-Fraumeni Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Li-Fraumeni Syndrome
Gene/Platform/Region List:
TP53

Li-Fraumeni Syndrome

Category:
Cancer
Sub Category:
Li-Fraumeni Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
University Health Network
Disease/Condition:
Li-Fraumeni Syndrome
Gene/Platform/Region List:
TP53

Li-Fraumeni Syndrome

Category:
Cancer
Sub Category:
Li-Fraumeni Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Kingston General Hospital
Disease/Condition:
Li-Fraumeni Syndrome
Gene/Platform/Region List:
TP53

Li-Fraumeni Syndrome

Category:
Cancer
Sub Category:
Li-Fraumeni Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Li-Fraumeni Syndrome
Gene/Platform/Region List:
TP53

Loeys-Dietz Syndrome

Category:
Cardiogenetics, Connective Tissue
Sub Category:
Loeys-Dietz Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
Loeys-Dietz Syndrome, Loeys-Dietz Aortic Aneurysm Syndrome, Marfan syndrome type 2
Gene/Platform/Region List:
SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

Long QT Syndrome Panel

Category:
Cardiogenetics
Sub Category:
Long QT Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Long QT Syndrome
Gene/Platform/Region List:
CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A, TECRL, TRDN

Long QT Syndrome Panel

Category:
Cardiogenetics
Sub Category:
Long QT Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
Long QT Syndrome
Gene/Platform/Region List:
CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A, TECRL, TRDN

Lynch Syndrome

Category:
Cancer
Sub Category:
Lynch Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Lynch Syndrome
Gene/Platform/Region List:
EPCAM, MLH1, MSH2, MSH6, PMS2

Lynch Syndrome

Category:
Cancer
Sub Category:
Lynch Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Lynch syndrome, HNPCC
Gene/Platform/Region List:
EPCAM, Germline MLH1 (if indicated), MLH1, MSH2, MSH6, PMS2

Lynch Syndrome Panel

Category:
Cancer
Sub Category:
Lynch Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Lynch Syndrome
Gene/Platform/Region List:
EPCAM, MLH1, MSH2, MSH6, PMS2

Lynch Syndrome Panel

Category:
Cancer
Sub Category:
Lynch Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Lynch Syndrome
Gene/Platform/Region List:
EPCAM, MLH1, MSH2, MSH6, PMS2

Lysosomal Storage Disorders

Category:
Metabolic
Sub Category:
Lysosomal Storage Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Tay–Sachs disease, Sandhoff disease, GM2-gangliosidosis AB variant, Schindler disease, Fabry disease, Krabbe disease, Farber disease, Gaucher disease, Lysosomal acid lipase deficiency, Niemann–Pick disease, Metachromatic leukodystrophy, Multiple sulfatase deficiency, Hurler syndrome, Scheie syndrome, Sanfilippo syndrome, Maroteaux–Lamy syndrome, Sly syndrome, hyaluronidase deficiency, sialidosis, I-cell disease, pseudo-Hurler polydystrophy, phosphotransferase deficiency, mucolipidin 1 deficiency, Niemann–Pick disease, Santavuori–Haltia disease (infantile NCL), Jansky–Bielschowsky disease (late infantile NCL), Batten–Spielmeyer–Vogt disease (juvenile NCL), Kufs disease (adult NCL), Finnish Variant (late infantile), Northern epilepsy, Turkish late infantile, German/Serbian late infantile, Congenital cathepsin D deficiency, Wolman disease, Neuronal ceroid lipofuscinoses, Mucolipidosis, Mucopolysaccharidoses, Glucocerebroside, Sphingomyelinase, Sulfatidosis, Alpha-mannosidosis, Beta-mannosidosis, Aspartylglucosaminuria, Fucosidosis, Cystinosis, Pycnodysostosis, Salla disease (sialic acid storage disease), Infantile free sialic acid storage disease, Pompe disease, Danon disease, Cholesteryl ester storage disease
Gene/Platform/Region List:
AGA, ARSA, ARSB, ASAH1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1

MADD/Glutaric aciduria type 2

Category:
Metabolic
Sub Category:
Fatty Acid Oxidation Diseases
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Multiple acyl-CoA dehydrogenase deficiency (MADD), Glutaric acidemia type II
Gene/Platform/Region List:
ETFA, ETFB, ETFDH, FLAD1, SLC52A1, SLC52A2, SLC52A3

MCAD deficiency

Category:
Metabolic
Sub Category:
Fatty Acid Oxidation Diseases
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Gene/Platform/Region List:
ACADM

MECP2 - Rett Syndrome

Category:
Neurodevelopmental
Sub Category:
Rett Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Rett syndrome, Encephalopathy, neonatal severe, Mental retardation, X-linked syndromic
Gene/Platform/Region List:
MECP2

MEN1 Syndrome

Category:
Cancer
Sub Category:
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
MEN1 Syndrome
Gene/Platform/Region List:
CDKN1B, MEN1

MEN1 Syndrome

Category:
Cancer
Sub Category:
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
Lab:
Test type:
Gene Panel
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:
Multiple Endocrine Neoplasia Type 1 & 4, MENS1, MENS4
Gene/Platform/Region List:
CDKN1B, MEN1

MEN1 Syndrome

Category:
Cancer
Sub Category:
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Multiple Endocrine Neoplasia Type 1 & 4, MENS1, MENS4
Gene/Platform/Region List:
CDKN1B, MEN1

MEN1 Syndrome

Category:
Cancer
Sub Category:
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
MEN1 syndrom
Gene/Platform/Region List:
CDKN1B, MEN1

MTHFR

Category:
Hematology
Sub Category:
Thrombosis
Lab:
Test type:
Targeted Variant
Lab/Location:
University Health Network
Disease/Condition:

Homocystinuria, Hereditary Thrombosis

Gene/Platform/Region List:

MTHFR

Malignant Hyperthermia

Category:
Neurogenetics, Pharmacogenetics
Sub Category:
Malignant Hyperthermia
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Malignant Hyperthermia, Hyperpyrexia, periodic paralysis, rhabdomyolysis
Gene/Platform/Region List:
CACNA1S, RYR1

Maple Syrup Urine Disease

Category:
Metabolic
Sub Category:
Amino Acid Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD
Gene/Platform/Region List:
BCKDHA, BCKDHB, DBT, DLD

Maple Syrup Urine Disease (BCKDHA)

Category:
Metabolic
Sub Category:
Maple Syrup Urine Disease
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Maple Syrup Urine Disease, BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUD
Gene/Platform/Region List:
BCKDHA

Marfan syndrome

Category:
Cardiogenetics, Connective Tissue
Sub Category:
Marfan Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
FBN1-Related Marfan Syndrome, Marfan Syndrome, Neonatal Marfan syndrome, Marfan syndrome type 2
Gene/Platform/Region List:
FBN1

Metachromatic Leukodystrophy

Category:
Metabolic
Sub Category:
Metachromatic Leukodystrophy
Lab:
Test type:
Single Gene
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:
Metachromatic Leukodystrophy (MLD), Arylsulfatase A Deficiency, ARSA Deficiency, Greenfield's disease
Gene/Platform/Region List:
ARSA

Microarray

Category:
Chromosomal Anomalies, Neurodevelopmental
Sub Category:
Microarray: Microduplication/deletion Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Developmental Delay, Intellectual Disability, Two or more congenital anomalies

Microarray (Constitutional) Prenatal, Amniotic Fluid- DIAGNOSTIC Testing

Category:
Chromosomal Anomalies, Fertility\Reproductive, Limited Access
Sub Category:
Microarray: Microduplication/deletion Syndrome- Prenatal
Lab:
Test type:
Cytogenetic
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:

Abnormal first trimester screening, Abnormal ultrasound findings, History of chromosomal abnormalities

Gene/Platform/Region List:

Chromosome complement

Microarray Analysis

Category:
Chromosomal Anomalies, Multiple Congenital Anomalies, Neurodevelopmental
Sub Category:
Microarray: Microduplication/deletion Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Postnatal and perinatal analysis, Intellectual disability, developmental delay, autism spectrum disorders, congenital abnormalities

Gene/Platform/Region List:

Affymetrix Cytoscan HD Microarray (oligo+SNP) genomic microarray

Microarray Follow-up Study

Category:
Chromosomal Anomalies
Sub Category:
Microarray: Microduplication/deletion Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Confirming Microarray findings

Gene/Platform/Region List:

Custom

Microcephaly, Amish type

Category:
Multiple Congenital Anomalies
Sub Category:
Microcephaly
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Microcephaly, Amish type
Gene/Platform/Region List:
SLC25A19

Mitochondrial Encephalopathy/Leigh Disease

Category:
Mitochondrial
Sub Category:
Mitochondrial nuclear gene
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Mitochondrial Encephalopathy (MELAS), Leigh Disease, subacute necrotizing encephalopathy (SNE)
Gene/Platform/Region List:
AARS2, ACAD9, ACO2, AFG3L2, AIFM1, APTX, ATP5F1E, ATPAF2, BCS1L, BOLA3, COQ2, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7A1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GFER, GFM1, GFM2, HLCS, HSPD1, LARS2, LIAS, LMBRD1, LRPPRC, MARS2, MFN2, MPV17, MRPS16, MTFMT, MTPAP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFU1, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PNPT1, POLG, RARS2, RMND1, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHD, SERAC1, SLC19A3, SUCLA2, SUCLG1, SUCLG2, SURF1, TACO1, TIMM44, TK2, TMEM70, TOMM20, TPK1, TRMU, TSFM, TTC19, TUFM, TUSC3, TWNK, TYMP, UQCRB, UQCRQ, YARS2

Mitochondrial Gene Panels

Category:
Mitochondrial
Sub Category:
Mitochondrial Genome
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Kearns-Sayre Syndrome, Leber's Hereditary Optic Neuropathy (LHON), MELAS, myoclonic epilepsy with ragged red fibers (MERRF), neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), Pearson marrow pancreas syndrome, Progressive external ophthalmoplegia (PEO), Hepatocerebral mtDNA depletion syndrome (Deoxyguansine kinase deficiency (DGUOK)), Myopathic mtDNA depletion syndrome (Thymidine kinase deficiency (TK2)), SANDO syndrome, ALPERS syndrome, SCAE syndrome, familial PEO
Gene/Platform/Region List:
APTX, COX1, COX2, COX3, CYTB, DGUOK, DNA2, FBXL4, GFER, MGME1, MPV17, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, OPA1, OPA3 (isoform A & B), POLG, POLG2, RRM2B, SLC25A4, SPG7 (isoform 1 & 2), SUCLA2, SUCLG1, TK2, TWNK (C10orf2), TYMP

Mitochondrial Genome Panel

Category:
Mitochondrial
Sub Category:
Mitochondrial Genome
Lab:
Test type:
Gene Panel
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:
Kearns-Sayre Syndrome, Leber's Hereditary Optic Neuropathy (LHON), MELAS, myoclonic epilepsy with ragged red fibers (MERRF), neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), Pearson marrow pancreas syndrome, Progressive external ophthalmoplegia (PEO), Hepatocerebral mtDNA depletion syndrome (Deoxyguansine kinase deficiency (DGUOK)), Myopathic mtDNA depletion syndrome (Thymidine kinase deficiency (TK2)), SANDO syndrome, ALPERS syndrome, SCAE syndrome, familial PEO
Gene/Platform/Region List:
MD-CYB, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-T2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY

Molar Pregnancy

Category:
Fertility\Reproductive
Sub Category:
Molar Pregnancy
Lab:
Test type:
Other
Lab/Location:
North York General Hospital
Disease/Condition:

Molar pregnancy

Gene/Platform/Region List:

Chromosomes 13, 18, 21, X and Y

Mosaic Karyotype

Category:
Chromosomal Anomalies, Fertility\Reproductive
Sub Category:
Chromosomal Anomalies
Lab:
Test type:
Cytogenetic
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Turner Syndrome, Suspected Mosaicism, Infertility

Motor Neuronopathies Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Motor Neuronopathies
Gene/Platform/Region List:
ASAH1, BICD2, BSCL2, CHCHD10, DCTN1, DYNC1H1, EXOSC3, GARS1, HINT1, HSPB3, HSPB8, IGHMBP2, REEP1, SLC52A2, SLC52A3, SLC5A7, SMN1, SPG11, TRIP4, TRPV4, UBA1, VRK1, WARS1, AARS1, ASCC1, DNAJB2, FBXO38, HSPB1, PLEKHG5, SETX, SIGMAR1, SYT2, VAPB

Mucopolysaccharidosis type 1

Category:
Metabolic
Sub Category:
Mucopolysaccharidosis type 1
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Mucopolysaccharidosis type 1, Hurler Syndrome
Gene/Platform/Region List:
IDUA

Multiple Carboxylase Deficiency

Category:
Metabolic
Sub Category:
Organic Acid Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Carbonic Anhydrase Deficiency, Holocarboxylase Synthetase Deficiency, Biotinidase Deficiency
Gene/Platform/Region List:
CA5A, HLCS, BTD

Multiple Endocrine Neoplasia Type 1

Category:
Cancer
Sub Category:
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 4
Gene/Platform/Region List:
CDKN1B, MEN1

Multiple Endocrine Neoplasia Type 2

Category:
Cancer
Sub Category:
Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Multiple Endocrine Neoplasia Type 2
Gene/Platform/Region List:
RET

Multiple carboxylase Deficiency: Biotinidase Deficiency

Category:
Metabolic
Sub Category:
Organic Acid Disorders
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Biotinidase Deficiency, Late-Onset Multiple Carboxylase Deficiency, BTD Deficiency, infantile multiple carboxylase deficiency, juvenile multiple carboxylase deficiency, delayed-onset biotinidase deficiency, profound biotinidase deficiency, partial biotinidase deficiency
Gene/Platform/Region List:
BTD

Muscle Diseases Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Muscle diseases
Gene/Platform/Region List:
ABHD5, ACAD9, ACADL, ACADM, ACADVL, ACTA1, ACTN2, ACVR1, ADSS1, AGL, AGRN, ALDOA, ALG14, ALG2, ANO5, ASCC3, ATP1A2, ATP2A1, ATP5F1D, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, C1QBP, CACNA1A, CACNA1H, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CLN3, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT1A, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DNAJB4, DNAJB6, DNM2, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, ECEL1, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, FDX2, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GATM, GBE1, GFPT1, GGPS1, GIPC1, GMPPB, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, IGHMBP2, INPP5K, ISCU, ITGA7, JAG2, KBTBD13, KCNA1, KCNE3, KCNJ2, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LMNA, LMOD3, LPIN1, LRIF1, LRP12, LRP4, MAP3K20, MB, MCOLN1, MEGF10, MGME1, MICU1, MLIP, MPDU1, MSTN, MSTO1, MTM1, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NEB, ORAI1, PABPN1, PAX7, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PREPL, PRKAG2, PURA, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RILPL1, RNASEH1, RPH3A, RRM2B, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC12A3, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SLC5A7, SMCHD1, SNAP25, SPEG, SPTBN4, STAC3, STIM1, SUCLA2, SVIL, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TCAP, TK2, TMEM43, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM54, TRIM63, TRIP4, TRMT5, TSFM, TTN, TYMP, UNC13A, UNC45B, VAMP1, VCP, VMA21, YARS2

Muscular Dystrophies Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Muscular Dystrophies, Congenital Muscular Dystrophy (CMD), Limb-girdle Muscular Dystrophy (LGMD), Emery-Dreifuss muscular dystrophy (also called scapulo-peroneal), dystrophinopathy (Duchene Muscular Dystrophy and Becker Muscular Dystrophy), Oculopharyngodistal myopathy, Facioscapulohumeral muscular dystrophy (FSHD), and myotonic dystrophy

Neurofibromatosis type 1

Category:
Cancer
Sub Category:
Neurofibromatosis type 1
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Neurofibromatosis type 1
Gene/Platform/Region List:
NF1

Neurofibromatosis, Type 1 (NF1)

Category:
Cancer
Sub Category:
Neurofibromatosis type 1
Lab:
Test type:
Single Gene
Lab/Location:
University Health Network
Disease/Condition:
Neurofibromatosis Type 1(NF1), Von Recklinghausen Disease, Legius Syndrome
Gene/Platform/Region List:
NF1

Neuromuscular Channelopathies Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Neuromuscular Channelopathies, myotonia congenita, paramyotonia congenita, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, Andersen-Tawil syndrome, potassium-aggravated myotonia
Gene/Platform/Region List:
ATP1A2, CACNA1A, CACNA1S, CLCN1, KCNA1, KCNE3, KCNJ2, SCN4A, SLC12A3

Neuromuscular Diseases Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Neuromuscular diseases
Gene/Platform/Region List:
AARS1, ABCA1, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADVL, ACTA1, ACTN2, ACVR1, ADSS1, AGL, AGRN, AGTPBP1, AIFM1, ALDOA, ALG14, ALG2, ANO5, APTX, ARHGEF10, ARSA, ASAH1, ASCC1, ASCC3, ATL1, ATL3, ATM, ATP1A1, ATP1A2, ATP2A1, ATP5F1D, ATP7A, B3GALNT2, B4GALNT1, B4GAT1, BAG3, BCKDHB, BICD2, BIN1, BSCL2, BVES, C1QBP, CACNA1A, CACNA1H, CACNA1S, CADM3, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CCT5, CD59, CFAP276, CFL2, CHAT, CHCHD10, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CLN3, CLTCL1, CNTN1, CNTNAP1, COA7, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COX6A1, CPOX, CPT1A, CPT2, CRPPA, CRYAB, CTDP1, CYP27A1, DAG1, DARS2, DCAF8, DCTN1, DEGS1, DES, DGAT2, DGUOK, DHTKD1, DMD, DNAJB2, DNAJB4, DNAJB6, DNM2, DNMT1, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DST, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, EMD, ENO3, EPG5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, FAH, FBLN5, FBXO38, FDX2, FGD4, FHL1, FIG4, FKBP14, FKRP, FKTN, FLAD1, FLNC, FLVCR1, FXN, FXR1, GAA, GALC, GAN, GARS1, GATM, GBA2, GBE1, GBF1, GDAP1, GFPT1, GGPS1, GIPC1, GJB1, GJB3, GJC2, GLA, GMPPB, GNB4, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HNRNPA1, HNRNPA2B1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, INPP5K, ISCU, ITGA7, ITPR3, JAG1, JAG2, KARS1, KBTBD13, KCNA1, KCNA2, KCNE3, KCNJ2, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRIF1, LRP12, LRP4, LRSAM1, LYST, MAP3K20, MARS1, MB, MCM3AP, MCOLN1, MEGF10, MFN2, MGME1, MICU1, MLIP, MMACHC, MME, MORC2, MPDU1, MPV17, MPZ, MSTN, MSTO1, MT-ATP6, MTM1, MTMR2, MTRFR, MT-RNR1, MT-TL1, MTTP, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NAGA, NAGLU, NARS1, NDRG1, NEB, NEFH, NEFL, NGF, NHERF1, NMNAT2, NTRK1, OPA1, OPA3, ORAI1, PABPN1, PAX7, PCK2, PDHA1, PDK3, PDSS1, PDSS2, PEX10, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHYH, PIEZO2, PLEC, PLEKHG5, PMM2, PMP2, PMP22, PNKP, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POLR3A, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PPOX, PRDM12, PREPL, PRKAG2, PRNP, PRPS1, PRX, PTPN11, PURA, PUS1, PYGM, PYROXD1, RAB7A, RAPSN, RBCK1, REEP1, RETREG1, RFC1, RILPL1, RNASEH1, RPH3A, RRM2B, RXYLT1, RYR1, RYR3, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SELENON, SEPTIN9, SETX, SGCA, SGCB, SGCD, SGCG, SGPL1, SH3TC2, SIGMAR1, SIL1, SLC12A3, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A19, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMCHD1, SMN1, SNAP25, SORD, SOX10, SPAST, SPEG, SPG11, SPTBN4, SPTLC1, SPTLC2, STAC3, STIM1, SUCLA2, SURF1, SVIL, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TCAP, TFG, TK2, TMEM43, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIM54, TRIM63, TRIP4, TRMT5, TRPA1, TRPV4, TSFM, TTN, TTPA, TTR, TUBB3, TYMP, UBA1, UNC13A, UNC45B, VAMP1, VAPB, VCP, VMA21, VPS13A, VRK1, VWA1, WARS1, WNK1, XK, XPA, YARS1, YARS2, ZFHX2, ZFYVE26

Neuropathies Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Neuropathies , Non-5q spinal muscular atrophy
Gene/Platform/Region List:
AARS1, ABCA1, ABHD12, AGTPBP1, AIFM1, APTX, ARHGEF10, ARSA, ASAH1, ASCC1, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CCT5, CD59, CFAP276, CHCHD10, CLTCL1, CNTNAP1, COA7, COX6A1, CPOX, CTDP1, CYP27A1, DARS2, DCAF8, DCTN1, DEGS1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, EXOSC3, FAH, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FXN, GALC, GAN, GARS1, GBA2, GBF1, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, ITPR3, JAG1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, LAMP2, LDB3, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MEGF10, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MT-ATP6, MTMR2, MTRFR, MT-RNR1, MT-TL1, MTTP, NAGA, NAGLU, NARS1, NDRG1, NEFH, NEFL, NGF, NHERF1, NMNAT2, NTRK1, OPA1, OPA3, PCK2, PDHA1, PDK3, PEX10, PEX7, PHYH, PLEKHG5, PMM2, PMP2, PMP22, PNKP, POLG, POLR3A, PPOX, PRDM12, PRNP, PRPS1, PRX, PTPN11, RAB7A, REEP1, RETREG1, RFC1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SORD, SOX10, SPAST, SPG11, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XK, XPA, YARS1, ZFHX2, ZFYVE26

Niemann-Pick Disease

Category:
Metabolic
Sub Category:
Niemann-Pick Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Niemann-Pick Disease
Gene/Platform/Region List:
NPC1, NPC2

Nijmegen Breakage Syndrome

Category:
Cancer
Sub Category:
Nijmegen Breakage Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Nijmegen Breakage Syndrome
Gene/Platform/Region List:
NBN

Noonan Syndrome and RASopathies

Category:
Cardiogenetics, Immunity, Multiple Congenital Anomalies
Sub Category:
Noonan Syndrome and RASopathies
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Noonan syndrome, Noonan-like  syndrome, Costello syndrome, CFC syndrome, LEOPARD syndrome, Legius syndrome
Gene/Platform/Region List:
BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1 (Dosage ONLY)

Ornithine transcarbamylase deficiency

Category:
Metabolic
Sub Category:
Ornithine transcarbamylase deficiency
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Ornithine transcarbamylase deficiency, Ornithine Carbamoyltransferase Deficiency, OTC Deficiency
Gene/Platform/Region List:
OTC

PKD Full Analysis

Category:
Renal
Sub Category:
Polycystic Kidney Disease
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Polycystic Kidney Disease Autosomal Dominant (ADPKD), Polycystic Kidney Disease Autosomal Recessive (ARPKD), adult polycystic kidney disease (APKD)
Gene/Platform/Region List:
PKD1, PKD2, PKHD1

PKD1 Deletion/Duplication only

Category:
Renal
Sub Category:
Polycystic Kidney Disease
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Polycystic Kidney Disease Autosomal Dominant (ADPKD), adult polycystic kidney disease (APKD)
Gene/Platform/Region List:
PKD1

PKD1 Sequencing only

Category:
Renal
Sub Category:
Polycystic Kidney Disease
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Polycystic Kidney Disease Autosomal Dominant (ADPKD), adult polycystic kidney disease (APKD)
Gene/Platform/Region List:
PKD1

PKD2 Deletion/Duplication only

Category:
Renal
Sub Category:
Polycystic Kidney Disease
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Polycystic Kidney Disease Autosomal Dominant (ADPKD), adult polycystic kidney disease (APKD)
Gene/Platform/Region List:
PKD2

PKD2 Sequencing only

Category:
Renal
Sub Category:
Polycystic Kidney Disease
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Polycystic Kidney Disease Autosomal Dominant (ADPKD), adult polycystic kidney disease (APKD)
Gene/Platform/Region List:
PKD2

PKHD1 Deletion/Duplication only

Category:
Renal
Sub Category:
Polycystic Kidney Disease
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Polycystic Kidney Disease Autosomal Recessive (ARPKD), adult polycystic kidney disease (APKD)
Gene/Platform/Region List:
PKHD1

PKHD1 Sequencing only

Category:
Renal
Sub Category:
Polycystic Kidney Disease
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Polycystic Kidney Disease Autosomal Recessive (ARPKD), adult polycystic kidney disease (APKD)
Gene/Platform/Region List:
PKHD1

PTEN Hamartoma Tumour Syndrome

Category:
Cancer
Sub Category:
PTEN Hamartoma Tumour Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
University Health Network
Disease/Condition:
PTEN Hamartoma Tumour Syndrome, Cowden syndrome, Bannayan-Zonana syndrome, Bannayan-Riley-Ruvalcaba syndrome
Gene/Platform/Region List:
PTEN

PTEN Hamartoma Tumour Syndrome

Category:
Cancer
Sub Category:
PTEN Hamartoma Tumour Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
PTEN Hamartoma Tumour Syndrome
Gene/Platform/Region List:
PTEN

Pancreatic Adenocarcinoma

Category:
Cancer
Sub Category:
Hereditary Pancreatic Cancer (Adenocarcinoma)
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Pancreatic Cancer, Adenocarcinoma
Gene/Platform/Region List:
ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

Pancreatic Adenocarcinoma

Category:
Cancer
Sub Category:
Hereditary Pancreatic Cancer (Adenocarcinoma)
Lab:
Test type:
Gene Panel
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:
Pancreatic Cancer, Adenocarcinoma
Gene/Platform/Region List:
ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53

Pediatric Cardiomyopathy Panel

Category:
Cardiogenetics
Sub Category:
Cardiomyopathy
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Cardiomyopathy
Gene/Platform/Region List:
ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CAV3, CBL, CPT2, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HADHA, HADHB, HCN4, HRAS, JPH2, JUP, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MAP3K8, MIB1, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NF1, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS, RRAS2, RYR2, SCN5A, SGCD, SHOC2, SLC22A5, SLC25A20, SLC25A4, SOS1, SOS2, SPRED2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

Pediatric Cardiomyopathy and Arrythmia Panel

Category:
Cardiogenetics
Sub Category:
Cardiomyopathy and Arrhythmia
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Cardiomyopathy and Arrhythmia
Gene/Platform/Region List:
ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CBL, CPT2, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HADHA, HADHB, HCN4, HRAS, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MAP3K8, MIB1, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NF1, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS, RRAS2, RYR2, SCN5A, SGCD, SHOC2, SLC22A5, SLC25A20, SLC25A4, SLC4A3, SOS1, SOS2, SPRED2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

Pediatric Cardiomyopathy and Arrythmia Panel

Category:
Cardiogenetics
Sub Category:
Cardiomyopathy and Arrhythmia
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
Cardiomyopathy and Arrhythmia
Gene/Platform/Region List:
ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CBL, CPT2, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HADHA, HADHB, HCN4, HRAS, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MAP3K8, MIB1, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NF1, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS, RRAS2, RYR2, SCN5A, SGCD, SHOC2, SLC22A5, SLC25A20, SLC25A4, SLC4A3, SOS1, SOS2, SPRED2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

Pediatric Cardiomyopathy panel

Category:
Cardiogenetics
Sub Category:
Cardiomyopathy
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
Cardiomyopathy
Gene/Platform/Region List:
ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CAV3, CBL, CPT2, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HADHA, HADHB, HCN4, HRAS, JPH2, JUP, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MAP3K8, MIB1, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NF1, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS, RRAS2, RYR2, SCN5A, SGCD, SHOC2, SLC22A5, SLC25A20, SLC25A4, SOS1, SOS2, SPRED2, TAB2, TAFAZZIN, TBX20, TBX5, TCAP, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

Pediatric Hypertrophic Cardiomyopathy Panel

Category:
Cardiogenetics
Sub Category:
Hypertrophic Cardiomyopathy
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Hypertrophic Cardiomyopathy
Gene/Platform/Region List:
ABCC9, ACTC1, ACTN2, AGL, ALPK3, BRAF, CACNA1C, CBL, CSRP3, DES, FHL1, FHOD3, FLNC, GAA, GLA, HRAS, JPH2, KLHL24, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NF1, NRAS, PLN, PPP1CB, PRKAG2, PTPN11, RAF1, RIT1, RRAS, RRAS2, SHOC2, SLC22A5, SLC25A4, SOS1, SOS2, SPRED2, TAB2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL

Pediatric Hypertrophic Cardiomyopathy Panel

Category:
Cardiogenetics
Sub Category:
Hypertrophic Cardiomyopathy
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
Hypertrophic Cardiomyopathy
Gene/Platform/Region List:
ABCC9, ACTC1, ACTN2, AGL, ALPK3, BRAF, CACNA1C, CBL, CSRP3, DES, FHL1, FHOD3, FLNC, GAA, GLA, HRAS, JPH2, KLHL24, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, MTO1, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NF1, NRAS, PLN, PPP1CB, PRKAG2, PTPN11, RAF1, RIT1, RRAS, RRAS2, SHOC2, SLC22A5, SLC25A4, SOS1, SOS2, SPRED2, TAB2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL

Peutz-Jeghers Syndrome

Category:
Cancer
Sub Category:
Peutz-Jeghers Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Kingston General Hospital
Disease/Condition:
Peutz-Jeghers Syndrome
Gene/Platform/Region List:
STK11

Peutz-Jeghers Syndrome

Category:
Cancer
Sub Category:
Peutz-Jeghers Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Peutz-Jeghers Syndrome
Gene/Platform/Region List:
STK11

Peutz-Jeghers Syndrome

Category:
Cancer
Sub Category:
Peutz-Jeghers Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
University Health Network
Disease/Condition:
Peutz-Jeghers Syndrome
Gene/Platform/Region List:
STK11

Pharmacogenetic testing - DPYD

Category:
Pharmacogenetics
Sub Category:
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Lab:
Test type:
Lab/Location:
University Health Network
Disease/Condition:
Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria, 5-fluorouracil toxicity
Gene/Platform/Region List:
DPYD

Phenylketonuria

Category:
Metabolic
Sub Category:
Amino Acid Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Phenylketonuria, DNAJC12 Deficiency, GTP Cyclohydrolase Deficiency, DOPA-Responsive Dystonia, PCBD1 Deficiency, PTS Deficiency, QDPR Deficiency, Sepiapterin Reductase Deficiency

Polyposis

Category:
Cancer
Sub Category:
Hereditary Polyposis Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Hereditary Colorectal Cancer, Colon Cancer
Gene/Platform/Region List:
BMPR1A, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53, APC

Polyposis

Category:
Cancer
Sub Category:
Hereditary Polyposis Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:
Hereditary Colorectal Cancer, Colon Cancer
Gene/Platform/Region List:
BMPR1A, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53, APC

Polyposis

Category:
Cancer
Sub Category:
Hereditary Polyposis Syndrome
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
hereditary colorectal cancer, colon cancer
Gene/Platform/Region List:
APC, BMPR1A, EPCAM, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

Prader Willi syndrome

Category:
Neurodevelopmental
Sub Category:
Prader Willi syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
Prader Willi syndrome (PWS), HHHO (hypogonadism, hypotonia, hypomentia, obesity), Prader-Labhart-Willi syndrome
Gene/Platform/Region List:
15q11-q13

Prader-Willi Syndrome

Category:
Neurodevelopmental
Sub Category:
Prader Willi syndrome
Lab:
Test type:
Single Gene
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Prader Willi syndrome
Gene/Platform/Region List:
SNRPN

Prader-Willi Syndrome - UPD

Category:
Chromosomal Anomalies
Sub Category:
Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
Lab:
Test type:
Other
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

UPD15, Prader Willi Syndrome

Gene/Platform/Region List:

Chromosome 15, SNRPN

Primary immune deficiencies

Category:
Immunity
Sub Category:
Primary immune deficiencies
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Primary immune deficiencies
Gene/Platform/Region List:
ACD, ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1S, C2, C3, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CFD, CFI, CFP, CHD7, CIITA, COPA, CR2, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1C, DKC1, DNASE2, DNMT3B, DOCK2, DOCK8, EBF1, EPG5, ERCC6L2, EXTL3, FADD, FAS, FASLG, FCHO1, FERMT3, FOXN1, FOXP3, G6PD, GATA2, GFI1, GINS1, HELLS, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6ST, IL7R, IRAK4, IRF2BP2, IRF8, ISG15, ITGB2, ITK, JAK1, JAK3, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LRBA, LRRC8A, LYST, MAGT1, MALT1, MAP3K14, MEFV, MRTFA, MOGS, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF2, NCF4, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NRAS, NSMCE3, ORAI1, OTULIN, PARN, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, POLD1, POLE, POLE2, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RORC, RTEL1, SAMHD1, SBDS, SEMA3E, SERPING1, SH2D1A, SLC29A3, SLC35C1, SLC39A7, SLC7A7, SMARCAL1, SP110, SPINK5, SPPL2A, STAT1, STAT2, STAT3, STIM1, STING1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TCF3, TCN2, TERC, TERT, TFRC, TGFB1, TINF2, TMC6, TMC8, TNFAIP3, TNFRSF13B, TNFRSF1A, TNFRSF4, TNFRSF9, TRAC, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNC93B1, UNG, USP18, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24, ZNF341

Progressive Myoclonic Epilepsy Panel

Category:
Neurogenetics
Sub Category:
Progressive Myoclonic Epilepsy
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Epilepsy
Gene/Platform/Region List:
ASAH1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, EPM2A, GOSR2, GRN, KCNC1, KCTD7, MFSD8, NEU1, NHLRC1, PPT1, SCARB2, SERPINI1, SGCE, TPP1

Progressive external ophthalmoplegia (PEO) and Optic atrophy

Category:
Mitochondrial
Sub Category:
Mitochondrial nuclear gene
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Progressive external ophthalmoplegia (PEO), Optic-nerve degeneration, Optic Atrophy
Gene/Platform/Region List:
ACO2, AFG3L2, ALG3, ANTXR1, ATP1A3, AUH, C19orf12, C1QBP, CCDC88A, CISD2, CLN3, DGUOK, DNA2, DNAJC19, DNAJC30, DNM1L, DNMT1, FA2H, FDX2, FDXR, FH, GYG2, IBA57, ISCA2, KIF21A, KLC2, MECR, MFF, MFN2, MGME1, MICOS13, MTFMT, MTO1, MTPAP, MTRFR, NARS2, NDUFAF3, NDUFS1, NR2F1, OPA1, OPA3, PANK2, PDHX, PDSS1, PHOX2A, PLA2G6, PLP1, POLG, POLG2, PRPS1, RNASEH1, ROBO3, RRM2B, RTN4IP1, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SLC52A2, SLC52A3, SNX10, SPG7, SUCLA2, TACO1, TCIRG1, TIMM8A, TK2, TMEM126A, TSFM, TUBB3, TUBB4A, TWNK, TYMP, UCHL1, WDR73, WFS1, YME1L1

Propionic / Methylmalonic acidemias

Category:
Metabolic
Sub Category:
Fatty Acid Oxidation Diseases
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Propionic acidemia, propionyl-CoA carboxylase deficiency, homocysteinemia, Methylmalonic acidemia, MMA, Isolated Methylmalonic Aciduria
Gene/Platform/Region List:
ABCD4, ACSF3, ALDH6A1, AMN, CBLIF, CD320, CUBN, HCFC1, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2

Prothrombin Gene 20210A Mutation

Category:
Hematology
Sub Category:
Thrombophilia (Factor II Prothrombin)
Lab:
Test type:
Targeted Variant
Lab/Location:
North York General Hospital
Disease/Condition:

Prothrombin Thrombophilia, Hyperprothrombinemia, Prothrombin G20210A thrombophilia, Factor II-related thrombophilia, Thrombophilia due to factor 2 defect, F2-Related Thrombophilia, Prothrombin thrombophilia

Gene/Platform/Region List:

F2 (c.*97G>A)

Prothrombin Mutation G20210A

Category:
Hematology
Sub Category:
Thrombophilia (Factor II Prothrombin)
Lab:
Test type:
Targeted Variant
Lab/Location:
St. Michael’s Hospital
Disease/Condition:

Prothrombin Thrombophilia, Hyperprothrombinemia, Prothrombin G20210A thrombophilia, Factor II-related thrombophilia, Thrombophilia due to factor 2 defect, F2-Related Thrombophilia, Prothrombin thrombophilia

Gene/Platform/Region List:

F2

Prothrombin Thrombophilia

Category:
Hematology
Sub Category:
Thrombophilia (Factor II Prothrombin)
Lab:
Test type:
Targeted Variant
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Prothrombin Thrombophilia, Hyperprothrombinemia, Prothrombin G20210A thrombophilia, Factor II-related thrombophilia, Thrombophilia due to factor 2 defect, F2-Related Thrombophilia, Prothrombin thrombophilia

Gene/Platform/Region List:

F2

Pyruvate dehydrogenase complex deficiency

Category:
Mitochondrial
Sub Category:
Mitochondrial nuclear gene
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, PDH E2 Deficiency, DLD Deficiency, Hyperglycinemia-lactic acidosis-seizures, Lipoyltransferase Deficiency, Multiple Mitochondrial Dysfunctions Syndrome 1, Pyruvate Carboxylase, Pyruvate Dehydrogenase Deficiency, PDHE1-alpha, PDHE1-beta, PDH-X, CMT X-linked Type 6, PDH Phosphatase Deficiency, Thiamine-Responsive Megaloblastic Anemia, Thiamine Metabolism Dysfunction Syndrome 5
Gene/Platform/Region List:
BOLA3, DLAT, DLD, LIAS, LIPT1, LIPT2, NFU1, PC, PDHA1, PDHB, PDHX, PDK3, PDP1, SLC19A2, SLC19A3, TPK1

Rapid Aneuploidy Detection

Category:
Chromosomal Anomalies, Fertility\Reproductive
Sub Category:
Aneuploidy Studies
Lab:
Test type:
Other
Lab/Location:
Mount Sinai Hospital
Gene/Platform/Region List:

Chromosomes 13, 18, 21, X and Y

Rapid Aneuploidy Detection

Category:
Chromosomal Anomalies, Fertility\Reproductive
Sub Category:
Aneuploidy Studies
Lab:
Test type:
Other
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Rapid Aneuploidy detection of Chromosome 13, 18, 21, X & Y, RAD

Gene/Platform/Region List:

Chromosomes 13, 18, 21, X and Y

Rapid Aneuploidy Detection

Category:
Chromosomal Anomalies, Fertility\Reproductive
Sub Category:
Aneuploidy Studies
Lab:
Test type:
Other
Lab/Location:
Kingston General Hospital
Disease/Condition:

Aneuploidy for chromosomes 13, 15, 16, 18, 21, 22, X and Y

Gene/Platform/Region List:

Chromosomes 13, 15, 16 ,18, 21, 22, X and Y

Rapid Aneuploidy Detection (RAD)

Category:
Chromosomal Anomalies, Fertility\Reproductive, Multiple Congenital Anomalies
Sub Category:
Aneuploidy Studies
Lab:
Test type:
Other
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Prenatal, perinatal, postnatal aneuploidy

Gene/Platform/Region List:

Chromosomes 13, 18, 21, X and Y

Rapid FISH: Ambiguous genitalia

Category:
Chromosomal Anomalies
Sub Category:
FISH: Disorders of Sex Development
Lab:
Test type:
Cytogenetic
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Disorders of sex development

Gene/Platform/Region List:

CEPX/CEPY (centromere X/centromere Y)

Rapid FISH: Trisomy 13

Category:
Chromosomal Anomalies
Sub Category:
Aneuploidy Studies
Lab:
Test type:
Cytogenetic
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Trisomy 13, Patau Syndrome

Gene/Platform/Region List:

Trisomy 13 (FOXO1 (13q14))

Rapid FISH: Trisomy 18

Category:
Chromosomal Anomalies
Sub Category:
Aneuploidy Studies
Lab:
Test type:
Cytogenetic
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Trisomy 18, Edward Syndrome

Gene/Platform/Region List:

Trisomy 18 (MALT1 (18q21))

Rapid FISH: Trisomy 21

Category:
Chromosomal Anomalies
Sub Category:
Aneuploidy Studies
Lab:
Test type:
Cytogenetic
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Down syndrome, Trisomy 21

Gene/Platform/Region List:

Down syndrome (LSI21 (21q22))

Rare Polyposis

Category:
Cancer
Sub Category:
Rare Polyposis Genes
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Hereditary Colorectal Cancer, Colon Cancer
Gene/Platform/Region List:
GALNT12, RPS20

Rare Polyposis

Category:
Cancer
Sub Category:
Rare Polyposis Genes
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
hereditary colorectal cancer, colon cancer
Gene/Platform/Region List:
GALNT12, RPS20

Rare Polyposis Genes

Category:
Cancer
Sub Category:
Rare Polyposis Genes
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
hereditary colorectal cancer, colon cancer
Gene/Platform/Region List:
GALNT12, RPS20

Rare Polyposis Genes

Category:
Cancer
Sub Category:
Rare Polyposis Genes
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Rare Polyposis
Gene/Platform/Region List:
GALNT12, RPS20

Renal Disease: Focal Segmental Glomerulonephritis Syndrome (FSGS) and membranous nephropathies

Category:
Renal
Sub Category:
Focal Segmental Glomerulonephritis Syndrome (FSGS)
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Congenital Nephrotic Syndrome; Congenital Finnish Nephosis, Focal Segmental Glomerulosclerosis
Gene/Platform/Region List:
ACTN4, ADCK4, CD2AP, COQ2, INF2, LAMB2, LMX1B, MYH9, NPHS1, NPHS2, PDSS2, PLCE1, SCARB2, SMARCAL1, TRPC6, WT1

Retinoblastoma

Category:
Cancer, Ophthalmology
Sub Category:
Retinoblastoma
Lab:
Test type:
Single Gene
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Retinoblastoma
Gene/Platform/Region List:
RB1

Retinoblastoma

Category:
Cancer, Ophthalmology
Sub Category:
Retinoblastoma
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Retinoblastoma
Gene/Platform/Region List:
RB1

Retinoblastoma

Category:
Cancer, Ophthalmology
Sub Category:
Retinoblastoma
Lab:
Test type:
Single Gene
Lab/Location:
North York General Hospital
Disease/Condition:
Retinoblastoma
Gene/Platform/Region List:
RB1

Retinoblastoma

Category:
Cancer, Ophthalmology
Sub Category:
Retinoblastoma
Lab:
Test type:
Single Gene
Lab/Location:
Kingston General Hospital
Disease/Condition:
Retinoblastoma
Gene/Platform/Region List:
RB1

Retinoblastoma

Category:
Cancer
Sub Category:
Retinoblastoma
Lab:
Test type:
Single Gene
Lab/Location:
University Health Network
Disease/Condition:
Retinoblastoma
Gene/Platform/Region List:
RB1

Rhabdoid Predisposition Syndrome

Category:
Cancer
Sub Category:
Rhabdoid Tumor Predisposition Syndrome (RTPS)
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Rhabdoid Tumor Predisposition Syndrome (RTPS)
Gene/Platform/Region List:
SMARCA4, SMARCB1

Rhabdoid Predisposition Syndrome

Category:
Cancer
Sub Category:
Rhabdoid Tumor Predisposition Syndrome (RTPS)
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Rhabdoid Tumor Predisposition Syndrome (RTPS)
Gene/Platform/Region List:
SMARCA4, SMARCB1

Rhabdoid Predisposition Syndrome

Category:
Cancer
Sub Category:
Rhabdoid Tumor Predisposition Syndrome (RTPS)
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Rhabdoid Tumor Predisposition Syndrome (RTPS)
Gene/Platform/Region List:
SMARCA4, SMARCB1

Rhabdoid Predisposition Syndrome

Category:
Cancer
Sub Category:
Rhabdoid Tumor Predisposition Syndrome (RTPS)
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Rhabdoid Tumor Predisposition Syndrome (RTPS)
Gene/Platform/Region List:
SMARCA4, SMARCB1

Rhabdomyolysis and Metabolic Myopathies Panel

Category:
Neurogenetics
Sub Category:
Neuromuscular Disease
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Rhabdomyolysis, metabolic myopathies
Gene/Platform/Region List:
ABHD5, ACAD9, ACADL, ACADM, ACADVL, AGL, ALDOA, ANO5, ATP2A1, ATP5F1D, C1QBP, CACNA1S, CAPN3, CASQ1, CAV3, CHKB, CPT1A, CPT2, CRPPA, DAG1, DGUOK, DMD, DNAJB6, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FDX2, FHL1, FKRP, FKTN, FLAD1, GAA, GATM, GBE1, GMPPB, GYG1, GYS1, HADHA, HADHB, ISCU, ITGA7, LAMA2, LAMP2, LARGE1, LDHA, LPIN1, MGME1, MLIP, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PNPLA2, PNPLA8, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RYR1, SCN4A, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC22A5, SLC25A20, SLC25A3, SLC25A32, SLC25A4, SLC25A42, STAC3, SUCLA2, TAFAZZIN, TANGO2, TCAP, TK2, TNPO3, TRIM32, TRMT5, TSFM, TYMP, YARS2

Russell Silver Syndrome

Category:
Skeletal\Growth
Sub Category:
Russell Silver Syndrome
Lab:
Test type:
Targeted Variant
Lab/Location:
The Hospital for Sick Children
Disease/Condition:

Silver-Russell Syndrome (RSS)

Gene/Platform/Region List:

H19 (IC1), Chromosome 7

SCID ADA

Category:
Immunity, Metabolic
Sub Category:
Primary immune deficiencies
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Severe combined immunodeficiency- Adenosine deaminase deficiency, SCID-ADA
Gene/Platform/Region List:
ADA

Schwannomatosis

Sub Category:
Schwannomatosis
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Schwannomatosis
Gene/Platform/Region List:
LZTR1, NF2, SMARCB1

Schwannomatosis

Category:
Cancer
Sub Category:
Schwannomatosis
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Schwannomatosis, Neurofibromatosis Type 2
Gene/Platform/Region List:
LZTR1, NF2, SMARCB1

Schwannomatosis

Category:
Cancer
Sub Category:
Schwannomatosis
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Schwannomatosis
Gene/Platform/Region List:
LZTR1, NF2, SMARCB1

Schwannomatosis

Category:
Cancer
Sub Category:
Schwannomatosis
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Schwannomatosis
Gene/Platform/Region List:
LZTR1, NF2, SMARCB1

Schwannomatosis

Category:
Cancer
Sub Category:
Schwannomatosis
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Schwannomatosis
Gene/Platform/Region List:
LZTR1, NF2, SMARCB1

Single Gene test: DPYD

Category:
Pharmacogenetics
Sub Category:
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Lab:
Test type:
Targeted Variant
Lab/Location:
Sunnybrook Health Sciences Centre
Disease/Condition:

Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria

Gene/Platform/Region List:

DPYD (c.1129-5923C>G), DPYD (c.1679T>G (p.I560S)), DPYD (c.1905+1G>A), DPYD (c.2846A>T (p.D949V)), DPYD (c.557A>G (p.Y186C))

Single Gene test: Factor V Leiden

Category:
Hematology, Limited Access
Sub Category:
Thrombophilia (Factor V Leiden)
Lab:
Test type:
Targeted Variant
Lab/Location:
Sunnybrook Health Sciences Centre
Disease/Condition:

Factor V Leiden Thrombophilia, Hereditary Resistance to Activated Protein C

Gene/Platform/Region List:

F5 (c.1601G>A (p.R534Q))

Single Gene test: HFE

Category:
Hematology, Limited Access
Sub Category:
Hereditary Hemochromatosis
Lab:
Test type:
Targeted Variant
Lab/Location:
Sunnybrook Health Sciences Centre
Disease/Condition:

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

Gene/Platform/Region List:

HFE (c.845G>A (p.C282Y)), HFE:c.187C>G (p.H63D)

Single Gene test: HLA-B*5701

Category:
Pharmacogenetics
Sub Category:
Abacavir hypersensitivity
Lab:
Test type:
Targeted Variant
Lab/Location:
Sunnybrook Health Sciences Centre
Disease/Condition:

Abacavir hypersensitivity

Gene/Platform/Region List:

HLA-B (p.F116S), HLA-B (p.R97V), HLA-B (p.T143T)

Single Gene test: MTHFR

Category:
Hematology, Limited Access
Sub Category:
Thrombosis
Lab:
Test type:
Targeted Variant
Lab/Location:
Sunnybrook Health Sciences Centre
Disease/Condition:

Homocystinuria, Hereditary Thrombosis

Gene/Platform/Region List:

MTHFR (c.665C>T (p.A222V))

Single Gene test: Prothrombin 20210

Category:
Hematology, Limited Access
Sub Category:
Thrombophilia (Factor II Prothrombin)
Lab:
Test type:
Targeted Variant
Lab/Location:
Sunnybrook Health Sciences Centre
Disease/Condition:

Prothrombin Thrombophilia, Hyperprothrombinemia, Prothrombin G20210A thrombophilia, Factor II-related thrombophilia, Thrombophilia due to factor 2 defect, F2-Related Thrombophilia, Prothrombin thrombophilia

Gene/Platform/Region List:

F2 (c.*97G>A (20210G>A))

Single Gene test: TPMT

Category:
Pharmacogenetics, Limited Access
Sub Category:
Thiopurine S-methyltransferase deficiency (TPMT)
Lab:
Test type:
Targeted Variant
Lab/Location:
Sunnybrook Health Sciences Centre
Disease/Condition:

Thiopurine S-methyltransferase deficiency

Gene/Platform/Region List:

TPMT (c.238G>C (p.Ala80Pro)), TPMT (c.460G>A (p.Ala154Thr)), TPMT (c.719A>G (p.Tyr240Cys))

Single Genetests (HFE)

Category:
Hematology
Sub Category:
Hereditary Hemochromatosis
Lab:
Test type:
Targeted Variant
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

Gene/Platform/Region List:

HFE

Smith-Lemli-Opitz Syndrome

Category:
Metabolic
Sub Category:
Smith-Lemli-Opitz Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Hamilton Health Sciences Centre
Disease/Condition:
Smith-Lemli-Opitz Syndrome (SLOS), RSH syndrome, Smith-Lemli-Opitz syndrome type II, 7-dehydrocholesterol reductase deficiency, DHCR7 abnormality
Gene/Platform/Region List:
DHCR7

Soft Tissue Cancer Panel

Category:
Cancer
Sub Category:
Hereditary Soft Tissue Sarcomas
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Soft Tissue Carcinoma
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

Soft Tissue Sarcoma

Category:
Cancer
Sub Category:
Hereditary Soft Tissue Sarcomas
Lab:
Test type:
Gene Panel
Lab/Location:
Trillium Health Partners - Credit Valley Hospital
Disease/Condition:
Soft Tissue Sarcoma
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

Soft Tissue Sarcoma

Category:
Cancer
Sub Category:
Hereditary Soft Tissue Sarcomas
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Soft Tissue Sarcoma
Gene/Platform/Region List:
APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, NF1, PMS2, TP53

Spinal Muscular Atrophy

Category:
Neurogenetics
Sub Category:
Spinal Muscular Atrophy
Lab:
Test type:
Gene Panel
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Spinal Muscular Atrophy
Gene/Platform/Region List:
SMN1, SMN2, SMNC, SMNT

Spinal muscular atrophy

Category:
Neurogenetics
Sub Category:
Spinal muscular atrophy
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
Spinal muscular atrophy (SMA), SMA I (Werdnig-Hoffmann disease, acute SMA), SMA II (Chronic SMA, Dubowitz disease), SMA III (Kugelberg-Welander disease, juvenile SMA), SMA IV (adolescent-SMA, adult-onset SMA)
Gene/Platform/Region List:
SMN1, SMN2

Spinocerebellar Ataxia panel (SCA)

Category:
Neurogenetics
Sub Category:
Spinocerebellar Ataxia (SCA)
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Spinocerebellar Ataxia (SCA)
Gene/Platform/Region List:
ATXN1 (CAG repeats), ATXN2 (CAG repeats), ATXN3 (CAG repeats), ATXN7 (CAG repeats), ATXN8OS (CTA-CTG repeats), CACNA1A (CAG repeats), TBP (CAA-CAG repeats)

Targeted Microarray

Category:
Chromosomal Anomalies, Neurodevelopmental
Sub Category:
Microarray: Microduplication/deletion Syndrome
Lab:
Test type:
Cytogenetic
Lab/Location:
London Health Sciences Centre
Disease/Condition:

Targeted Microarray

Tay-Sachs Disease

Category:
Neurogenetics
Sub Category:
Tay-Sachs Disease
Lab:
Test type:
Single Gene
Lab/Location:
The Hospital for Sick Children
Disease/Condition:
Tay-Sachs Disease
Gene/Platform/Region List:
HEXA

Thoracic aneurisms and aortic dissections

Category:
Cardiogenetics
Sub Category:
Thoracic aneurisms and aortic dissections
Lab:
Test type:
Gene Panel
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:
Thoracic aneurisms and aortic dissections (TAAD), Annuloaortic ectasia, Familial aortic dissection, Familial aortic aneurysm
Gene/Platform/Region List:
ACTA2, ARIH1, COL3A1, EFEMP2, FBN1, FOXE3, LOX, MYH11, MYLK, PRKG1, ROBO4, SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, THSD4

Thrombosis

Category:
Hematology
Sub Category:
Thrombosis
Lab:
Test type:
Targeted Variant
Lab/Location:
University Health Network
Disease/Condition:

prothrombin deficiency, Prothrombin Thrombophilia, F2-related thrombophilia, factor II-related thrombophilia, prothrombin 20210G>A thrombophilia, FII, factor V leiden deficiency, factor V leiden thrombophilia, FV

Gene/Platform/Region List:

F2 (NM_00506.4:c.*_97G>A (Prothrombin G20210A)), F5 (NM_000130.3: p.Arg534Gln (Factor V Leiden R506Q)), MTHFR (NM_005957.3: p.Ala222Val (MTHFR C677T))

Tuberous Sclerosis

Category:
Cancer
Sub Category:
Tuberous Sclerosis
Lab:
Test type:
Gene Panel
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Tuberous Sclerosis
Gene/Platform/Region List:
TSC1, TSC2

Tuberous Sclerosis

Category:
Cancer
Sub Category:
Tuberous Sclerosis
Lab:
Test type:
Gene Panel
Lab/Location:
Kingston General Hospital
Disease/Condition:
Tuberous Sclerosis
Gene/Platform/Region List:
TSC1, TSC2

Tuberous Sclerosis

Category:
Cancer
Sub Category:
Tuberous Sclerosis
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
Tuberous Sclerosis
Gene/Platform/Region List:
TSC1, TSC2

Tuberous Sclerosis

Category:
Cancer
Sub Category:
Tuberous Sclerosis
Lab:
Test type:
Gene Panel
Lab/Location:
University Health Network
Disease/Condition:
Tuberous Sclerosis Complex, Bourneville Pringle Syndrome, Phakomatosis, TS, Tuberose Sclerosis
Gene/Platform/Region List:
TSC1, TSC2

Tuberous Sclerosis

Category:
Cancer
Sub Category:
Tuberous Sclerosis
Lab:
Test type:
Gene Panel
Lab/Location:
North York General Hospital
Disease/Condition:
Tuberous Sclerosis
Gene/Platform/Region List:
TSC1, TSC2

Tyrosinemia

Category:
Metabolic
Sub Category:
Amino Acid Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Tyrosinemia 1, Tyrosinemia 2, Tyrosinemia 3, MAAI
Gene/Platform/Region List:
FAH, GSTZ1, HPD, TAT

Tyrosinemia: Elevated Succinylacetone

Category:
Metabolic
Sub Category:
Tyrosinemia
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Tyrosinemia Type 1, FAH deficiency fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia hereditary tyrosinemia type 1
Gene/Platform/Region List:
FAH, GSTZ1

Tyrosinemia: Elevated Tyrosine

Category:
Metabolic
Sub Category:
Tyrosinemia
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Tyrosinemia type II, Richner Hanhart syndrome, TAT deficiency, Tyrosine transaminase deficiency, Keratosis palmoplantaris with corneal dystrophy, Oregon type tyrosinemia, Tyrosinosis oculocutaneous type, Tyrosine aminotransferase deficiency, Oculocutaneous tyrosinemia
Gene/Platform/Region List:
HPD, TAT

Urea Cycle Diseases: All

Category:
Metabolic
Sub Category:
Urea Cycle Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Gene/Platform/Region List:
ARG1, ASL, ASS1, BCKDHA, BCKDHB, CA5A, CPS1, DBT, DLD, GLUD1, GLUL, NAGS, OAT, OTC, SLC25A13, SLC25A15, SLC25A2, SLC7A7

Urea Cycle Diseases: High ASA

Category:
Metabolic
Sub Category:
Urea Cycle Disorders
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Argininosuccinic aciduria, Arginino succinase deficiency, argininosuccinate lyase deficiency, argininosuccinate acid lyase deficiency, ASA, ASL deficiency
Gene/Platform/Region List:
ASL

Urea Cycle Diseases: High Citrulline

Category:
Metabolic
Sub Category:
Urea Cycle Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Citrullinemia Type II, Citrullinemia type 2 Adult-onset, citrullinemia type 2, CTLN2, Citrin deficiency, Adult-onset citrullinemia type II, Adult-onset citrin deficiency, Adult-onset type II citrullinemia
Gene/Platform/Region List:
ASS1, SLC25A13

Urea Cycle Diseases: Low citrulline

Category:
Metabolic
Sub Category:
Urea Cycle Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Citrullinemia type I, Classic citrullinemia Argininosuccinate synthetase deficiency, CTNL1, Citrullinuria, ASS deficiency, Citrullinemia 1
Gene/Platform/Region List:
CPS1, NAGS, OTC

Urea Cycle Diseases: Other

Category:
Metabolic
Sub Category:
Urea Cycle Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Urea Cycle Disorders
Gene/Platform/Region List:
ARG1, CA5A, GLUD1, GLUL, OAT, SLC25A15, SLC25A2, SLC7A7

Urea Cycle Disorders

Category:
Metabolic
Sub Category:
Urea Cycle Disorders
Lab:
Test type:
Gene Panel
Lab/Location:
London Health Sciences Centre
Disease/Condition:
N-acetylglutamate synthase (NAGS) deficiency, Carbamoylphosphate synthetase I (CPS1) deficiency, Ornithine transcarbamylase (OTC) deficiency, Argininosuccinate synthase 1 (ASS1) deficiency or Citrullinemia type I, Citrin deficiency or Citrullinemia type II, Argininosuccinic lyase (ASL) deficiency, Arginase (ARG) deficiency, Ornithine translocase deficiency
Gene/Platform/Region List:
ARG1, ASL, ASS1, CA5A, CPS1, GLUD1, GLUL, NAGS, OTC, SLC25A13, SLC25A15, SLC25A2, SLC7A7

VLCAD deficiency

Category:
Metabolic
Sub Category:
Fatty Acid Oxidation Diseases
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency, VLCAD Deficiency
Gene/Platform/Region List:
ACADVL

Von Hippel-Lindau Syndrome

Category:
Cancer
Sub Category:
Von Hippel-Lindau Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
Mount Sinai Hospital
Disease/Condition:
Von Hippel-Lindau Syndrome
Gene/Platform/Region List:
VHL

Von Hippel-Lindau Syndrome

Category:
Cancer
Sub Category:
Von Hippel-Lindau Syndrome
Lab:
Test type:
Single Gene
Lab/Location:
University Health Network
Disease/Condition:
VHL syndrome, VHL disease, Von Hippel-Lindau syndrome
Gene/Platform/Region List:
VHL

Whole Exome Sequencing (WES)

Category:
Genome-wide
Sub Category:
Whole Exome Sequencing (WES)
Lab:
Test type:
Genome-wide
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Moderate to severe developmental or functional impairment, Multisystem involvement Progressive clinical course, Differential diagnosis includes ≥ 2 well defined conditions requiring evaluation by multiple targeted gene panels, Suspected severe genetic syndrome NYD for which multiple family members are also affected or where parents are consanguineous

Whole Genome Sequencing (WGS)

Category:
Genome-wide
Sub Category:
Whole Genome Sequencing (WGS)
Lab:
Test type:
Genome-wide
Lab/Location:
Children's Hospital of Eastern Ontario
Disease/Condition:

Moderate to severe developmental or functional impairment, Multisystem involvement Progressive clinical course, Differential diagnosis includes ≥ 2 well defined conditions requiring evaluation by multiple targeted gene panels, Suspected severe genetic syndrome NYD for which multiple family members are also affected or where parents are consanguineous

b-ketothiolase deficiency

Category:
Metabolic
Sub Category:
Organic Acid Disorders
Lab:
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario
Disease/Condition:
Ketothiolase deficiency, Beta-keta thiolase deficiency
Gene/Platform/Region List:
ACAT1

mtDNA depletion and deletion

Category:
Mitochondrial
Sub Category:
Mitochondrial nuclear gene
Lab:
Test type:
Gene Panel
Lab/Location:
Newborn Screening Ontario
Gene/Platform/Region List:
AGK, DGUOK, DNA2, FBXL4, GFER, MFN2, MGME1, MPV17, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK, TYMP

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Last Updated: February 23, 2026

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