22q11.2 Deletion Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
- 22q11.21 Deletion Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
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:
- patient-paid testing
- genetic screening through Prenatal Screening Ontario
- genetic screening through Newborn Screening Ontario
- tumour testing through the Comprehensive Cancer Biomarker Testing Program
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.
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Skeletal\Growth
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Pharmacogenetics
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(23)
Neurogenetics
(42)
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(9)
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London Health Sciences Centre
(99)
The Hospital for Sick Children
(80)
National Inherited Bleeding Disorder Genotyping Laboratory, KGH
(3)
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St. Michael’s Hospital
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(81)
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We were unable to find a match for the filters selected. Please reset the filters to search again.AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
- AXIN2-related Attenuated Familial Adenomatous Polyposis
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
- AXIN2-related Attenuated Familial Adenomatous Polyposis
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
- AXIN2-related Attenuated Familial Adenomatous Polyposis
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
- AXIN2-related Attenuated Familial Adenomatous Polyposis
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
- AXIN2-related Attenuated Familial Adenomatous Polyposis
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
- AXIN2-related Attenuated Familial Adenomatous Polyposis
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Achondroplasia / Hypochondroplasia
- Category:
- Skeletal\Growth
- Sub Category:
- Achondroplasia and Hypochondroplasia
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Actionable Gene Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
- Actionable Epilepsy
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Adenosine deaminase deficiency
- Category:
- Immunity , Metabolic
- Sub Category:
- Adenosine Deaminase Deficiency (ADA)
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Adult Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
- Cardiomyopathy
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Adult Cardiomyopathy and Arrythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
- Cardiomyopathy and Arrhythmia
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Adult Cardiomyopathy and Arrythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
- Cardiomyopathy and Arrhythmia
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Adult Cardiomyopathy panel
- Category:
- Cardiogenetics
- Sub Category:
- Cardiomyopathy
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Adult Hypertrophic Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
- Hypertrophic Cardiomyopathy
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Adult Hypertrophic Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
- Hypertrophic Cardiomyopathy
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Adult Mitochondrial Disease Nuclear Gene Panel
- Category:
- Mitochondrial
- Sub Category:
- Mitochondrial nuclear gene
- Test type:
- Gene Panel
- Lab/Location:
- Hamilton Health Sciences Centre
Aicardi-Goutieres syndrome
- Category:
- Immunity
- Sub Category:
- Primary immune deficiencies
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Alpha Thalassemia
- Category:
- Hematology
- Sub Category:
- Alpha Thalassemia
- Test type:
- Gene Panel
- Lab/Location:
- Hamilton Health Sciences Centre
Alpha-1-Antitrypsin Deficiency
- Category:
- Respiratory
- Sub Category:
- Alpha-1-Antitrypsin Deficiency
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Amyloidosis
- Category:
- Renal
- Sub Category:
- Amyloidosis
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Amyloidosis
- Category:
- Renal
- Sub Category:
- Amyloidosis
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Amyloidosis panel
- Category:
- Renal
- Sub Category:
- Amyloidosis
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Aneuploidy Testing - Fetal Demise
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Aneuploidy Studies- Perinatal
- Test type:
- Other
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Aneuploidy Testing - Post Natal
- Category:
- Chromosomal Anomalies
- Sub Category:
- Aneuploidy Studies
- Test type:
- Other
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Angelman Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
- Angelman Syndrome
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Angelman Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
- Angelman/Prader Willi Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Children's Hospital of Eastern Ontario
Angelman Syndrome - UPD
- Category:
- Chromosomal Anomalies
- Sub Category:
- Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Arginase Deficiency
- Category:
- Metabolic
- Sub Category:
- Arginase Deficiency
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Arrhythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
- Arrhythmia
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Arrhythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
- Arrhythmia
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Arterial Tortuosity Syndrome
- Category:
- Connective Tissue , Cardiogenetics
- Sub Category:
- Arterial Tortuosity Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Children's Hospital of Eastern Ontario
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
- Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
- Lab/Location:
- Kingston General Hospital
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
- Ashkenazi Jewish Panel
- Lab:
- Mount Sinai Hospital
- Test type:
- Targeted Variant
- Lab/Location:
- Mount Sinai Hospital
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
- Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
- Lab/Location:
- London Health Sciences Centre
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
- Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
- Lab/Location:
- North York General Hospital
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
- Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
- Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
- Lab/Location:
- University Health Network
Ashkenazi Jewish panel
- Category:
- Fertility\Reproductive
- Sub Category:
- Ashkenazi Jewish Screening panel
- Test type:
- Targeted Variant
- Lab/Location:
- The Hospital for Sick Children
Ataxia Telangiectasia /Nijmegen Breakage Syndrome
- Category:
- Neurogenetics
- Sub Category:
- Ataxia Telangiectasia (Nijmegen Breakage Syndrome)
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Autoinflammatory Disease Panel: Recurrent Fever Syndrome
- Category:
- Immunity
- Sub Category:
- Recurrent Fever Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Autoinflammatory Disease: AG Panel 4
- Category:
- Immunity
- Sub Category:
- Aicardi-Goutieres Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Autoinflammatory Disease: AI Panel 3
- Category:
- Immunity
- Sub Category:
- Autoinflammatory Disease
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel
- Category:
- Immunity
- Sub Category:
- Hemophagocytic Lymphohistiocytosis (HLH)
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Autosomal dominant PKD Analysis
- Category:
- Renal
- Sub Category:
- Polycystic Kidney Disease
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Autosomal recessive PKD Analysis
- Category:
- Renal
- Sub Category:
- Polycystic Kidney Disease
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
BAP1 Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- BAP1 Tumour Predisposition Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
BAP1 Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- BAP1 Tumour Predisposition Syndrome
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
BAP1 Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- BAP1 Tumour Predisposition Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
BAP1 Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- BAP1 Tumour Predisposition Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
BAP1 Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- BAP1 Tumour Predisposition Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
BAP1 Tumour Predisposition/ Mesothelioma
- Category:
- Cancer
- Sub Category:
- BAP1 Tumour Predisposition Syndrome
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Basal Cell Nevus Syndrome
- Category:
- Cancer
- Sub Category:
- Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Batten Disease
- Category:
- Metabolic
- Sub Category:
- Batten Disease (Neuronal Ceroid Lipofuscinoses)
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Becker Muscular Dystrophy
- Category:
- Neurogenetics
- Sub Category:
- Becker Muscular Dystrophy
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Beckwith-Wiedemann Syndrome
- Category:
- Skeletal\Growth
- Sub Category:
- Beckwith-Wiedemann Syndrome
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Beta Thalassemia
- Category:
- Hematology
- Sub Category:
- Beta Thalassemia
- Test type:
- Gene Panel
- Lab/Location:
- Hamilton Health Sciences Centre
Biotinidase Deficiency (BTD gene)
- Category:
- Metabolic
- Sub Category:
- Biotinidase Deficiency
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
- Birt-Hogg-Dube Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
- Birt-Hogg-Dube Syndrome
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
- Birt-Hogg-Dube Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
- Birt-Hogg-Dube Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
- Birt-Hogg-Dube Syndrome
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
- Birt-Hogg-Dube Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Bloom Syndrome
- Category:
- Hematology
- Sub Category:
- Bloom Syndrome
- Test type:
- Cytogenetic , Targeted Variant
- Lab/Location:
- The Hospital for Sick Children
Bone Marrow Transplant Testing (BMT)
- Category:
- Multipurpose
- Sub Category:
- Bone Marrow Transplant Testing (BMT)
- Test type:
- Other
- Lab/Location:
- The Hospital for Sick Children
Brain Malformation Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
- Brain Malformation Epilepsy
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Brugada Syndrome Panel
- Category:
- Cardiogenetics
- Sub Category:
- Brugada Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Children's Hospital of Eastern Ontario
Brugada Syndrome Panel
- Category:
- Cardiogenetics
- Sub Category:
- Brugada Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
C9orf72-related disorders
- Category:
- Neurogenetics
- Sub Category:
- C9orf72-related disorders
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
CACT deficiency
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
CADASIL
- Category:
- Neurogenetics
- Sub Category:
- CADASIL
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
CNS Tumour
- Category:
- Cancer
- Sub Category:
- Hereditary Central Nervous System (CNS) Tumours
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
CPT1 deficiency
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
CPT2 deficiency
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
Canavan Disease
- Category:
- Skeletal\Growth
- Sub Category:
- Canavan Disease
- Test type:
- Targeted Variant
- Lab/Location:
- The Hospital for Sick Children
Carney Complex
- Category:
- Cancer
- Sub Category:
- Carney Complex
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Carney Complex
- Category:
- Cancer
- Sub Category:
- Carney Complex
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Carney Complex
- Category:
- Cancer
- Sub Category:
- Carney Complex
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Carney Complex
- Category:
- Cancer
- Sub Category:
- Carney Complex
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Carney Complex
- Category:
- Cancer
- Sub Category:
- Carney Complex
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Carney Complex
- Category:
- Cancer
- Sub Category:
- Carney Complex
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Carnitine Uptake Deficiency
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
- Category:
- Cardiogenetics
- Sub Category:
- Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
- Category:
- Cardiogenetics
- Sub Category:
- Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Central Nervous System Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Central Nervous System (CNS) Tumours
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Charcot-Marie-Tooth Gene Panels
- Category:
- Neurogenetics
- Sub Category:
- Charcot-Marie-Tooth disease
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Childhood Onset Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
- Childhood onset Epilepsy
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Chondrodysplasia punctata 1
- Category:
- Skeletal\Growth
- Sub Category:
- Chondrodysplasia punctata 1
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Chromosome analysis
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Chromosomal Anomalies
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
Chronic Granulomatous Disease
- Category:
- Immunity
- Sub Category:
- Primary immune deficiencies
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Coagulation Panel (Factor II, Factor V, and MTHFR)
- Category:
- Hematology
- Sub Category:
- Coagulation Panel
- Test type:
- Gene Panel , Targeted Variant
- Lab/Location:
- The Hospital for Sick Children
Comprehensive Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Comprehensive Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Comprehensive Cancer Panel (Germline)
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Comprehensive Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
- Epilepsy
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Comprehensive Hereditary Breast/Ovarian and GI Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
- Category:
- Endocrinology
- Sub Category:
- Congenital Adrenal Hyperplasia
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
Congenital Adrenal Hyperplasia: Other
- Category:
- Endocrinology
- Sub Category:
- Congenital Adrenal Hyperplasia
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Congenital Muscular Dystrophy
- Category:
- Neurogenetics
- Sub Category:
- Congenital Muscular Dystrophy
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Connective Tissue Disease: Bone Involvement Panel
- Category:
- Connective Tissue
- Sub Category:
- Bone Involvement
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Connective Tissue Disease: Ehlers-Danlos Syndrome Panel
- Category:
- Connective Tissue , Cardiogenetics
- Sub Category:
- Ehlers-Danlos Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Connective Tissue Disease: Osteogenesis Imperfecta Panel
- Category:
- Connective Tissue
- Sub Category:
- Osteogenesis Imperfecta
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Connective Tissue Disease: Osteopetrosis and disorders of increased bone density Panel
- Category:
- Connective Tissue
- Sub Category:
- Osteopetrosis and disorders of increased bone density
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Constitutional Chromosome Analysis
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Chromosomal Anomalies
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional Chromosome Analysis (Karyotype)
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Chromosomal Anomalies
- Lab:
- Mount Sinai Hospital
- Test type:
- Cytogenetic
- Lab/Location:
- Mount Sinai Hospital
Constitutional Chromosome Analysis, Routine GTG
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Chromosomal Anomalies
- Test type:
- Cytogenetic
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Constitutional Chromosome Analysis, Routine GTG banding
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Chromosomal Anomalies
- Test type:
- Cytogenetic
- Lab/Location:
- North York General Hospital
Constitutional FISH Test: Wolf-Hirschhorn syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Wolf-Hirschhorn Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH panel: 22q11.21 Deletion Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH panel: Aneuvysion FISH
- Category:
- Chromosomal Anomalies
- Sub Category:
- Aneuploidy Studies
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH panel: Angelmans Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Angelman/Prader Willi Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH panel: Cri-du-Chat Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Cri-du-Chat Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH panel: Disorders of sex development
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Disorders of Sex Development
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH panel: Kallmann Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Kallmann Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH panel: Prader-Willi Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Angelman/Prader Willi Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH panel: Smith-Magenis Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Smith-Magenis Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH panel: Steroid Sulfatase Deficiency
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Steroid Sulfatase Deficiency
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH panel: Turners Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Turners Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH panel: Williams Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Williams Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Kingston General Hospital
Constitutional FISH test: 22q11.21 Deletion Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- North York General Hospital
Constitutional FISH: 22q11.21 Deletion Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Constitutional FISH: Disorders of sex development
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Disorders of Sex Development
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Constitutional FISH: Kallman Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Kallmann Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Constitutional FISH: Miller-Dieker Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Miller-Dieker Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Constitutional FISH: Prader Willi/Angelman Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Angelman/Prader Willi Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Constitutional FISH: Smith-Magenis Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Smith-Magenis Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Constitutional FISH: Williams Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Williams Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Craniosynostosis Molecular Analysis
- Category:
- Skeletal\Growth
- Sub Category:
- Craniosynostosis
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Cystic Fibrosis
- Category:
- Fertility\Reproductive , Respiratory
- Sub Category:
- Cystic Fibrosis
- Test type:
- Targeted Variant
- Lab/Location:
- London Health Sciences Centre
Cystic Fibrosis
- Category:
- Respiratory
- Sub Category:
- Cystic Fibrosis
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Cystinosis
- Category:
- Renal
- Sub Category:
- Cystinosis
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
- DICER-associated Syndrome
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
- DICER-associated Syndrome
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
- DICER-associated Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
- DICER-associated Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
- DICER-associated Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
- DICER-associated Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
DPYD
- Category:
- Pharmacogenetics
- Sub Category:
- Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Lab:
- Dynacare
- Test type:
- Targeted Variant
- Lab/Location:
- Dynacare
DPYD
- Category:
- Pharmacogenetics
- Sub Category:
- Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
- Targeted Variant
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
DPYD Genotyping
- Category:
- Pharmacogenetics
- Sub Category:
- Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
- Targeted Variant
- Lab/Location:
- North York General Hospital
DPYD Genotyping
- Category:
- Pharmacogenetics
- Sub Category:
- Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
- Targeted Variant
- Lab/Location:
- London Health Sciences Centre
DPYD Genotyping
- Category:
- Pharmacogenetics
- Sub Category:
- Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
- Targeted Variant
- Lab/Location:
- Kingston General Hospital
Deep Vein Thrombosis
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor II Prothrombin and V Leiden)
- Test type:
- Targeted Variant
- Lab/Location:
- Kingston General Hospital
Dentatorubral-pallidoluysian atrophy (DRPLA)
- Category:
- Neurogenetics
- Sub Category:
- Dentatorubral-pallidoluysian atrophy
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Duchenne Muscular Dystrophy
- Category:
- Neurogenetics
- Sub Category:
- Duchenne Muscular Dystrophy
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
- Dysplastic Nevus Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
- Dysplastic Nevus Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
- Dysplastic Nevus Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
- Dysplastic Nevus Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
- Dysplastic Nevus Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
- Dysplastic Nevus Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Early Infantile Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
- Early Infantile Epilepsy
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Establish/Expand Cell line, Bank Cells and Sendout
- Category:
- Multipurpose
- Sub Category:
- Cell Line
- Test type:
- Other
- Lab/Location:
- The Hospital for Sick Children
FISH Analysis
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Hamilton Health Sciences Centre
FISH Analysis - Cascade
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH- Cascade
- Test type:
- Cytogenetic
- Lab/Location:
- Hamilton Health Sciences Centre
FISH: 22q11.21 Deletion Syndrome (DiGeorge)
- Category:
- Chromosomal Anomalies
- Sub Category:
- 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
FISH: Angelman Syndrome (AS)
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Angelman/Prader Willi Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
FISH: Cri-du-Chat Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- Cri-du-Chat Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
FISH: DiGeorge Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
FISH: Disorders of sex development
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Disorders of Sex Development
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
FISH: Disorders of sex development (SRY/DYZ1/DXZ1)
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Disorders of Sex Development
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
FISH: Kallmann Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- Kallmann Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
FISH: Miller-Dieker syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Miller-Dieker Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
FISH: Phelan-McDermid syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Phelan-McDermid Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
FISH: Prader-Willi Syndrome (PWS)
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Angelman/Prader Willi Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
FISH: Saethre-Chotzen
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Saethre-Chotzen Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
FISH: Smith-Magenis Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Smith-Magenis Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
FISH: Smith-Magenis syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- Smith-Magenis Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
FISH: Sotos syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Sotos Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
FISH: Steroid Sulfatase Deficiency
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Steroid Sulfatase Deficiency
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
FISH: Williams Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Williams Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
FISH: Williams syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Williams Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
FISH: Wolf-Hirschhorn Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Wolf-Hirschhorn Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
FISH: Wolf-Hirschhorn syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Wolf-Hirschhorn Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
Fabry Disease
- Category:
- Metabolic
- Sub Category:
- Fabry Disease
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Facioscapulohumeral Muscular Dystrophy
- Category:
- Neurogenetics
- Sub Category:
- Facioscapulohumeral Muscular Dystrophy
- Test type:
- Other
- Lab/Location:
- Children's Hospital of Eastern Ontario
Factor II/Factor V
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor II Prothrombin and V Leiden)
- Test type:
- Targeted Variant
- Lab/Location:
- Children's Hospital of Eastern Ontario
Factor V Leiden
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor V Leiden)
- Test type:
- Targeted Variant
- Lab/Location:
- North York General Hospital
Factor V Leiden
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor V Leiden)
- Test type:
- Single Gene
- Lab/Location:
- Hamilton Health Sciences Centre
Factor V Leiden
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor V Leiden)
- Test type:
- Targeted Variant
- Lab/Location:
- St. Michael’s Hospital
Factor V Leiden & Factor II Prothrombin
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor II Prothrombin and V Leiden)
- Lab:
- Mount Sinai Hospital
- Test type:
- Targeted Variant
- Lab/Location:
- Mount Sinai Hospital
Factor V Leiden Thrombophilia
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor V Leiden)
- Test type:
- Targeted Variant
- Lab/Location:
- London Health Sciences Centre
Familial Adenomatous Polyposis (CHRPE, CMV Thyroid, Desmoid)
- Category:
- Cancer
- Sub Category:
- Familial Adenomatous Polyposis
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Familial Adenomatous Polyposis (CHRPE, CMV Thyroid, Desmoid)
- Category:
- Cancer
- Sub Category:
- Familial Adenomatous Polyposis
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Familial Adenomatous Polyposis (CHRPE, CMV Thyroid, Desmoid) Panel
- Category:
- Cancer
- Sub Category:
- Familial Adenomatous Polyposis
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Familial Adenomatous Polyposis (CHRPE, CMV Thyroid, Desmoid) with MUTYH
- Category:
- Cancer
- Sub Category:
- Familial Adenomatous Polyposis
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Familial Adenomatous Polyposis (CHRPE, CMV Thyroid, Desmoid) with MUTYH
- Category:
- Cancer
- Sub Category:
- Familial Adenomatous Polyposis
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Familial Adenomatous Polyposis (FAP)
- Category:
- Cancer
- Sub Category:
- Familial Adenomatous Polyposis
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Familial Adenomatous Polyposis Panel
- Category:
- Cancer
- Sub Category:
- Familial Adenomatous Polyposis
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Familial Adenomatous Polyposis Panel
- Category:
- Cancer
- Sub Category:
- Familial Adenomatous Polyposis
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Familial Dysautonomia
- Category:
- Neurogenetics
- Sub Category:
- Familial Dysautonomia
- Test type:
- Targeted Variant
- Lab/Location:
- The Hospital for Sick Children
Familial GI Cancer (Lynch syndrome, Gastric, Pancreas, Polyposis)
- Category:
- Cancer
- Sub Category:
- Hereditary Gastrointestinal Cancer
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Familial Gastrointestinal Stromal Panel
- Category:
- Cancer
- Sub Category:
- Familial Gastrointestinal Stromal (GIST)
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Familial Gastrointestinal Stromal Panel
- Category:
- Cancer
- Sub Category:
- Familial Gastrointestinal Stromal (GIST)
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Familial Gastrointestinal Stromal Tumour
- Category:
- Cancer
- Sub Category:
- Familial Gastrointestinal Stromal (GIST)
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Familial Gastrointestinal Stromal Tumour
- Category:
- Cancer
- Sub Category:
- Familial Gastrointestinal Stromal (GIST)
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Familial Gastrointestinal Stromal Tumour
- Category:
- Cancer
- Sub Category:
- Familial Gastrointestinal Stromal (GIST)
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Familial Gastrointestinal Stromal Tumour
- Category:
- Cancer
- Sub Category:
- Familial Gastrointestinal Stromal (GIST)
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Familial Hypercholesterolemia
- Category:
- Endocrinology
- Sub Category:
- Familial Hypercholesterolemia
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Familial Hypercholesterolemia
- Category:
- Endocrinology
- Sub Category:
- Familial Hypercholesterolemia
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Familial Hypercholesterolemia
- Category:
- Endocrinology
- Sub Category:
- Familial Hypercholesterolemia
- Test type:
- Gene Panel
- Lab/Location:
- Hamilton Health Sciences Centre
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
- Familial Isolated Pituitary Adenoma
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
- Familial Isolated Pituitary Adenoma
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
- Familial Isolated Pituitary Adenoma
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
- Familial Isolated Pituitary Adenoma
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
- Familial Isolated Pituitary Adenoma
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
- Familial Isolated Pituitary Adenoma
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Familial Melanoma
- Category:
- Cancer
- Sub Category:
- Familial Melanoma
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Familial Melanoma
- Category:
- Cancer
- Sub Category:
- Familial Melanoma
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Familial Melanoma
- Category:
- Cancer
- Sub Category:
- Familial Melanoma
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Familial Melanoma
- Category:
- Cancer
- Sub Category:
- Familial Melanoma
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Familial Melanoma Panel
- Category:
- Cancer
- Sub Category:
- Familial Melanoma
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Familial Melanoma Panel
- Category:
- Cancer
- Sub Category:
- Familial Melanoma
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Familial Renal Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Renal Cancer
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Familial Renal Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Renal Cancer
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Familial Renal Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Renal Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Familial Renal Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Renal Cancer
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Familial Renal Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Familial Renal Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Renal Cancer
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Familial Soft Tissue Cancers
- Category:
- Cancer
- Sub Category:
- Hereditary Soft Tissue Sarcomas
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Fanconi Anemia (DEB, MMC)
- Category:
- Hematology
- Sub Category:
- Fanconi Anemia
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Fanconi Anemia Group C
- Category:
- Hematology
- Sub Category:
- Fanconi Anemia
- Test type:
- Targeted Variant
- Lab/Location:
- The Hospital for Sick Children
Fatty Acid Oxidation Diseases: Other
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Focal Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
- Focal Epilepsy
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Fragile X (FMR1 gene)
- Category:
- Neurodevelopmental
- Sub Category:
- Fragile X Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Children's Hospital of Eastern Ontario
Fragile X (FMR1 gene)
- Category:
- Neurodevelopmental
- Sub Category:
- Fragile X Syndrome
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Fragile X E (FMR2 gene)
- Category:
- Neurodevelopmental
- Sub Category:
- Fragile X Syndrome
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Fragile X Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
- Fragile X Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Fragile X Syndrome (FMR1 gene)
- Category:
- Neurodevelopmental
- Sub Category:
- Fragile X Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Fragile X-associated Premature Ovarian Insufficiency (FXPOI)
- Category:
- Fertility\Reproductive , Neurodevelopmental
- Sub Category:
- Fragile X Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Fragile X-associated tremor/ataxia syndrome
- Category:
- Neurogenetics , Neurodevelopmental
- Sub Category:
- Fragile X Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Friedreich's Ataxia (FRDA)
- Category:
- Neurogenetics
- Sub Category:
- Friedreich's Ataxia (FRDA)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Full mitochondrial nuclear gene panel
- Category:
- Mitochondrial
- Sub Category:
- Mitochondrial nuclear gene
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
GALT deficiency
- Category:
- Metabolic
- Sub Category:
- Galactosemia
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
GAMT deficiency
- Category:
- Metabolic
- Sub Category:
- Organic Acid Disorders
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
GTP Cyclohydrolase-1 related disorders (GCH1)
- Category:
- Neurogenetics
- Sub Category:
- GTP Cyclohydrolase-1 related disorders
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Galactose-1-Phosphate Uridyl Transferase Deficiency
- Category:
- Metabolic
- Sub Category:
- Galactose-1-Phosphate Uridyl Transferase Deficiency
- Test type:
- Single Gene
- Lab/Location:
- Hamilton Health Sciences Centre
Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)
- Category:
- Metabolic
- Sub Category:
- Galactosemia
- Test type:
- Targeted Variant
- Lab/Location:
- London Health Sciences Centre
Galactosemia: Other
- Category:
- Metabolic
- Sub Category:
- Galactosemia
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Gamma Polymerase Deficiency
- Category:
- Metabolic
- Sub Category:
- Gamma Polymerase Deficiency (POLG)
- Test type:
- Single Gene
- Lab/Location:
- Hamilton Health Sciences Centre
Gastric Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Gastric Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Gastric Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Gastric Cancer
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
General Comprehensive Hereditary Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Genetics - Microarray-constitutional, whole genome
- Category:
- Chromosomal Anomalies , Neurodevelopmental
- Sub Category:
- Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- North York General Hospital
Genetics - microarray-prenatal, whole genome
- Category:
- Chromosomal Anomalies
- Sub Category:
- Microarray: Microduplication/deletion Syndrome- Prenatal
- Test type:
- Cytogenetic
- Lab/Location:
- North York General Hospital
Genomic SNP Microarray - Follow-Up - Blood, Tissue
- Category:
- Chromosomal Anomalies
- Sub Category:
- Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Genomic SNP Microarray - Proband - Blood, Tissue
- Category:
- Chromosomal Anomalies , Neurodevelopmental
- Sub Category:
- Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Glutaric Aciduria Type 1
- Category:
- Metabolic
- Sub Category:
- Organic Acid Disorders
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
Glutaric Aciduria type I (GCDH gene)
- Category:
- Metabolic
- Sub Category:
- Glutaric Aciduria type I
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Glycogen Storage Disease Type 4
- Category:
- Metabolic
- Sub Category:
- Glycogen Storage Disease Type 4
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome)
- Category:
- Cancer
- Sub Category:
- Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
HCT Full Panel (76 Genes)
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Haemochromatosis
- Category:
- Hematology
- Sub Category:
- Hereditary Hemochromatosis
- Test type:
- Targeted Variant
- Lab/Location:
- North York General Hospital
Hearing Loss, Non-Syndromic (GJB2 (including GJB6 del) and SLC26A4)
- Category:
- Audiology
- Sub Category:
- Non-Syndromic Hearing Loss
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Hemochromatosis
- Category:
- Hematology
- Sub Category:
- Hereditary Hemochromatosis
- Test type:
- Targeted Variant
- Lab/Location:
- Kingston General Hospital
Hemochromatosis
- Category:
- Hematology
- Sub Category:
- Hereditary Hemochromatosis
- Test type:
- Targeted Variant
- Lab/Location:
- London Health Sciences Centre
Hemochromatosis Genotype
- Category:
- Hematology
- Sub Category:
- Hereditary Hemochromatosis
- Lab:
- Mount Sinai Hospital
- Test type:
- Targeted Variant
- Lab/Location:
- Mount Sinai Hospital
Hemoglobin Variants
- Category:
- Fertility\Reproductive , Hematology
- Sub Category:
- Hemoglobin Diseases
- Test type:
- Gene Panel
- Lab/Location:
- Hamilton Health Sciences Centre
Hemophilia A
- Category:
- Hematology
- Sub Category:
- Hemophilia A
- Test type:
- Single Gene
- Lab/Location:
- National Inherited Bleeding Disorder Genotyping Laboratory, KGH
Hemophilia B
- Category:
- Hematology
- Sub Category:
- Hemophilia B
- Test type:
- Single Gene
- Lab/Location:
- National Inherited Bleeding Disorder Genotyping Laboratory, KGH
Herditary Polyposis Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Polyposis Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Hereditary Breast/ Ovarian/ Prostate Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Breast, Ovarian, Prostate Cancer
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Breast/ Ovarian/ Prostate/ Gastrointestinal Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Breast/ Ovarian/ Prostate/ Melanoma Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Breast/Ovarian & Prostate Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Breast, Ovarian, Prostate Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Hereditary Breast/Ovarian/Prostate Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Breast, Ovarian, Prostate Cancer
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Hereditary Breast/Ovarian/Prostate Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Breast, Ovarian, Prostate Cancer
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Hereditary Breast/Ovarian/Prostate Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Breast, Ovarian, Prostate Cancer
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Hereditary Breast/Ovarian/Prostate Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Breast, Ovarian, Prostate Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Hereditary Breast/Ovarian/Prostate/GI Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Breast, Ovarian, Prostate, GI Cancer
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Hereditary CNS Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Central Nervous System (CNS) Tumours
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Hereditary Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Hamilton Health Sciences Centre
Hereditary Cancer Panel: BRCA1/BRCA2 Ashkenazi Jewish mutations panel
- Category:
- Cancer
- Sub Category:
- Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
- Lab/Location:
- Children's Hospital of Eastern Ontario
Hereditary Cancer Panel: Hereditary Breast/ Ovarian/ Prostate (HBOPC)
- Category:
- Cancer
- Sub Category:
- Breast, Ovarian, Prostate
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Hereditary Cancer Panel: Hereditary Pancreatic Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Hereditary Central Nervous System Tumour
- Category:
- Cancer
- Sub Category:
- Hereditary Central Nervous System (CNS) Tumours
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Central Nervous System Tumour
- Category:
- Cancer
- Sub Category:
- Hereditary Central Nervous System (CNS) Tumours
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Hereditary Central Nervous System Tumours
- Category:
- Cancer
- Sub Category:
- Hereditary Central Nervous System (CNS) Tumours
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Hereditary Comprehensive Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Hereditary Endometrial Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Endometrial Cancer
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Hereditary Endometrial Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Endometrial Cancer
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Endometrial Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Endometrial Cancer
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Hereditary Endometrial Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Endometrial Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Hereditary Endometrial Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Endometrial
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Hereditary Endometrial Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Endometrial
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Hereditary GI (Lynch syndrome, Gastric, Pancreas, Polyposis) Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Gastrointestinal Cancer
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Hereditary GI (Lynch syndrome, Gastric, Pancreas, Polyposis) Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Gastrointestinal Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Hereditary GI Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Gastrointestinal Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Hereditary Gastric Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Gastric Cancer
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Hereditary Gastric Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Gastric Cancer
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Gastric Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Gastric Cancer
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Hereditary Gastric Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Gastric Cancer
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Hereditary Gastrointestinal Cancer (Lynch Syndrome, Gastric, Pancreas, Polyposis)
- Category:
- Cancer
- Sub Category:
- Hereditary Gastrointestinal Cancer
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Gastrointestinal Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Gastrointestinal Cancer
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Hereditary Hearing Loss: Common and Non-Syndromic Hearing Loss Panel
- Category:
- Audiology
- Sub Category:
- Common and Non-Syndromic Hearing Loss
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Hereditary Hearing Loss: Stickler Syndrome
- Category:
- Connective Tissue , Audiology
- Sub Category:
- Stickler Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Hereditary Hearing Loss: Syndromic Hearing Loss
- Category:
- Audiology
- Sub Category:
- Syndromic Hearing Loss
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Hereditary Hearing Loss: Usher Syndrome
- Category:
- Audiology
- Sub Category:
- Usher Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Hereditary Hemochromatosis
- Category:
- Hematology
- Sub Category:
- Hereditary Hemochromatosis
- Test type:
- Targeted Variant
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Hereditary Hemochromatosis
- Category:
- Hematology
- Sub Category:
- Hereditary Hemochromatosis
- Test type:
- Targeted Variant
- Lab/Location:
- University Health Network
Hereditary Hemochromatosis
- Category:
- Hematology
- Sub Category:
- Hereditary Hemochromatosis
- Test type:
- Targeted Variant
- Lab/Location:
- Children's Hospital of Eastern Ontario
Hereditary Hemolytic Anemia Panel
- Category:
- Hematology
- Sub Category:
- Hereditary Anemia
- Test type:
- Gene Panel
- Lab/Location:
- Hamilton Health Sciences Centre
Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG
- Category:
- Hematology
- Sub Category:
- Hereditary Hemorrhagic Telangiectasia (HHT)
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing
- Category:
- Hematology
- Sub Category:
- Hereditary Hemorrhagic Telangiectasia (HHT)
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Hereditary Hyperparathyroidism
- Category:
- Endocrinology
- Sub Category:
- Hereditary Hyperparathyroidism
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Hereditary Hyperparathyroidism
- Category:
- Cancer
- Sub Category:
- Hereditary Hyperparathyroidism
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Hereditary Hyperparathyroidism
- Category:
- Cancer
- Sub Category:
- Hereditary Hyperparathyroidism
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Hyperparathyroidism
- Category:
- Cancer
- Sub Category:
- Hereditary Hyperparathyroidism
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Hereditary Hyperparathyroidism
- Category:
- Cancer
- Sub Category:
- Hereditary Hyperparathyroidism
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Hereditary Hyperparathyroidism
- Category:
- Cancer
- Sub Category:
- Hereditary Hyperparathyroidism
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Hereditary Leiomyomatosis and Renal Cell Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Leiomyomatosis and Renal Cell Cancer
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Hereditary Leiomyomatosis and Renal Cell Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Leiomyomatosis and Renal Cell Cancer
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Hereditary Leiomyomatosis and Renal Cell Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Leiomyomatosis and Renal Cell Cancer
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Hereditary Leiomyomatosis and Renal Cell Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Leiomyomatosis and Renal Cell Cancer
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Hereditary Leiomyomatosis and Renal Cell Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Leiomyomatosis and Renal Cell Cancer
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Hereditary Leiomyomatosis and Renal Cell Carcinoma
- Category:
- Cancer
- Sub Category:
- Hereditary Leiomyomatosis and Renal Cell Cancer
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Lung Cancer
- Test type:
- Targeted Variant
- Lab/Location:
- University Health Network
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Lung Cancer
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Lung Cancer
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Lung Cancer
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Lung Cancer
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Lung Cancer
- Test type:
- Targeted Variant
- Lab/Location:
- North York General Hospital
Hereditary Lynch Syndrome Panel
- Category:
- Cancer
- Sub Category:
- Lynch Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Hereditary Pancreatic Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Pancreatic Cancer (Adenocarcinoma)
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Pancreatic Cancer
- Category:
- Cancer
- Sub Category:
- Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Hereditary Pancreatic Cancer Panel (Adenocarcinoma)
- Category:
- Cancer
- Sub Category:
- Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Hereditary Pancreatic Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Hereditary Pheochromocytoma and Paraganglioma
- Category:
- Cancer
- Sub Category:
- Hereditary Pheochromocytoma and Paraganglioma
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Pheochromocytoma and Paraganglioma
- Category:
- Cancer
- Sub Category:
- Hereditary Pheochromocytoma and Paraganglioma
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Hereditary Pheochromocytoma and Paraganglioma
- Category:
- Cancer
- Sub Category:
- Hereditary Pheochromocytoma and Paraganglioma
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Hereditary Pheochromocytoma and Paraganglioma Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Pheochromocytoma and Paraganglioma
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Hereditary Pheochromocytoma and Paraganglioma Syndrome
- Category:
- Cancer
- Sub Category:
- Hereditary Pheochromocytoma and Paraganglioma
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Hereditary Pheochromocytoma/Paraganglioma Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Pheochromocytoma and Paraganglioma
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Hereditary Polyposis
- Category:
- Cancer
- Sub Category:
- Hereditary Polyposis Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Polyposis Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Polyposis Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Hereditary Soft Tissue Carcinoma Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Soft Tissue Sarcomas
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Hereditary Soft Tissue Tumour
- Category:
- Cancer
- Sub Category:
- Hereditary Soft Tissue Sarcomas
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Hereditary Spastic Paraplegia: Comprehensive
- Category:
- Neurogenetics
- Sub Category:
- Hereditary Spastic Paraplegia
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Hereditary Thrombophilia
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor II Prothrombin and V Leiden)
- Test type:
- Targeted Variant
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Hereditary sensory neuropathy type IA
- Category:
- Neurogenetics
- Sub Category:
- Hereditary Sensory Neuropathy
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Homocystinuria
- Category:
- Metabolic
- Sub Category:
- Amino Acid Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Homocystinuria: Hypermethioninemia
- Category:
- Metabolic
- Sub Category:
- Amino Acid Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Homocystinuria: Hypomethioninemia
- Category:
- Metabolic
- Sub Category:
- Amino Acid Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Huntington Disease (HD)
- Category:
- Neurogenetics
- Sub Category:
- Huntington Disease (HD)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Hydroxyglutaric Aciduria
- Category:
- Mitochondrial
- Sub Category:
- Mitochondrial nuclear gene
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Hyperferritinemia Cataract Syndrome
- Category:
- Ophthalmology
- Sub Category:
- Hyperferritinemia Cataract Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Hamilton Health Sciences Centre
Hyperkalemic periodic paralysis, type 2
- Category:
- Neurogenetics
- Sub Category:
- Hyperkalemic periodic paralysis
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Identity Testing
- Category:
- Multipurpose
- Sub Category:
- Identity testing
- Test type:
- Other
- Lab/Location:
- North York General Hospital
Identity testing
- Category:
- Multipurpose
- Sub Category:
- Identity testing
- Test type:
- Other
- Lab/Location:
- London Health Sciences Centre
Identity/Zygosity Testing
- Category:
- Multipurpose
- Sub Category:
- Identity testing
- Test type:
- Other
- Lab/Location:
- The Hospital for Sick Children
Isobutyryl-CoA dehydrogenase deficiency
- Category:
- Metabolic
- Sub Category:
- Organic Acid Disorders
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
Isovaleric acidemia
- Category:
- Metabolic
- Sub Category:
- Organic Acid Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Karyotype
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Chromosomal Anomalies
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Karyotype, GTG-banding
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Chromosomal Anomalies
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
LCHAD/MTP deficiency
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Lesch-Nyhan syndrome
- Category:
- Metabolic
- Sub Category:
- Lesch-Nyhan syndrome
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Li-Fraumeni
- Category:
- Cancer
- Sub Category:
- Li-Fraumeni Syndrome
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
- Li-Fraumeni Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
- Li-Fraumeni Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
- Li-Fraumeni Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
- Li-Fraumeni Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
- Li-Fraumeni Syndrome
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
- Li-Fraumeni Syndrome
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Loeys-Dietz Syndrome
- Category:
- Connective Tissue , Cardiogenetics
- Sub Category:
- Loeys-Dietz Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Long QT Syndrome Panel
- Category:
- Cardiogenetics
- Sub Category:
- Long QT Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Long QT Syndrome Panel
- Category:
- Cardiogenetics
- Sub Category:
- Long QT Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Lynch Syndrome
- Category:
- Cancer
- Sub Category:
- Lynch Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Lynch Syndrome
- Category:
- Cancer
- Sub Category:
- Lynch Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Lynch Syndrome Panel
- Category:
- Cancer
- Sub Category:
- Lynch Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Lynch Syndrome Panel
- Category:
- Cancer
- Sub Category:
- Lynch Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Lynch Syndrome Panel
- Category:
- Cancer
- Sub Category:
- Lynch Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Lysosomal Storage Disorders
- Category:
- Metabolic
- Sub Category:
- Lysosomal Storage Disorders
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
MADD/Glutaric aciduria type 2
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
MCAD deficiency
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
MECP2 - Rett Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
- Rett Syndrome
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
MEN1 Syndrome
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
MEN1 Syndrome
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
MEN1 Syndrome
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
MEN1 Syndrome
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
MLH1 germline methylation
- Category:
- Cancer
- Sub Category:
- Lynch Syndrome
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
MTHFR
- Category:
- Hematology
- Sub Category:
- Thrombosis
- Test type:
- Targeted Variant
- Lab/Location:
- University Health Network
Malignant Hyperthermia
- Category:
- Neurogenetics , Pharmacogenetics
- Sub Category:
- Malignant Hyperthermia
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Maple Syrup Urine Disease
- Category:
- Metabolic
- Sub Category:
- Amino Acid Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Maple Syrup Urine Disease (BCKDHA)
- Category:
- Metabolic
- Sub Category:
- Maple Syrup Urine Disease
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Marfan syndrome
- Category:
- Connective Tissue , Cardiogenetics
- Sub Category:
- Marfan Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Children's Hospital of Eastern Ontario
Maternal Cell Contamination (MCC)
- Category:
- Multipurpose
- Sub Category:
- Maternal cell contamination
- Test type:
- Other
- Lab/Location:
- North York General Hospital
Maternal Cell Contamination (MCC)
- Category:
- Multipurpose
- Sub Category:
- Maternal cell contamination
- Test type:
- Other
- Lab/Location:
- London Health Sciences Centre
Maternal Cell Contamination (MCC) Studies
- Category:
- Multipurpose
- Sub Category:
- Maternal cell contamination
- Test type:
- Other
- Lab/Location:
- The Hospital for Sick Children
Maternal cell contamination
- Category:
- Multipurpose , Fertility\Reproductive
- Sub Category:
- Maternal cell contamination
- Test type:
- Other
- Lab/Location:
- Children's Hospital of Eastern Ontario
Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Medium Chain Acyl-Coenzyme Deficiency
- Category:
- Metabolic
- Sub Category:
- Medium Chain Acyl-Coenzyme Deficiency (MCAD Deficiency)
- Test type:
- Single Gene
- Lab/Location:
- Hamilton Health Sciences Centre
Metachromatic Leukodystrophy
- Category:
- Metabolic
- Sub Category:
- Metachromatic Leukodystrophy
- Test type:
- Single Gene
- Lab/Location:
- Hamilton Health Sciences Centre
Metachromatic Leukodystrophy
- Category:
- Metabolic
- Sub Category:
- Metachromatic Leukodystrophy
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Mevalonic aciduria
- Category:
- Metabolic
- Sub Category:
- Mevalonic aciduria
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Microarray
- Category:
- Chromosomal Anomalies , Neurodevelopmental
- Sub Category:
- Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Microarray (Constitutional) Postnatal, Blood - DIAGNOSTIC Testing
- Category:
- Chromosomal Anomalies , Neurodevelopmental
- Sub Category:
- Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Microarray (Constitutional) Postnatal, Tissue - DIAGNOSTIC Testing
- Category:
- Chromosomal Anomalies , Neurodevelopmental
- Sub Category:
- Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Microarray (Constitutional) Prenatal, Amniotic Fluid- DIAGNOSTIC Testing
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Microarray: Microduplication/deletion Syndrome- Prenatal
- Test type:
- Cytogenetic
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Microarray Analysis
- Category:
- Chromosomal Anomalies , Multiple Congenital Anomalies , Neurodevelopmental
- Sub Category:
- Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
Microarray Follow Up FISH - Cascade
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Microarray Follow-up
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Microarray Follow Up FISH - Proband
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Microarray Follow-up
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Microarray Follow-up FISH of CNV's
- Category:
- Chromosomal Anomalies
- Sub Category:
- Microarray Follow-up
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
Microarray Follow-up Study
- Category:
- Chromosomal Anomalies
- Sub Category:
- Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Microarray Follow-up qPCR of CNV's
- Category:
- Chromosomal Anomalies
- Sub Category:
- Microarray Follow-up
- Test type:
- Cytogenetic
- Lab/Location:
- Children's Hospital of Eastern Ontario
Microarray for Prenatal and Perinatal testing
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Microarray: Microduplication/deletion Syndrome- Prenatal
- Lab:
- Mount Sinai Hospital
- Test type:
- Cytogenetic
- Lab/Location:
- Mount Sinai Hospital
Microcephaly, Amish type
- Category:
- Multiple Congenital Anomalies
- Sub Category:
- Microcephaly
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Mitochondrial Encephalopathy/Leigh Disease
- Category:
- Mitochondrial
- Sub Category:
- Mitochondrial nuclear gene
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Mitochondrial Gene Panels
- Category:
- Mitochondrial
- Sub Category:
- Mitochondrial Genome
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Mitochondrial Genome Panel
- Category:
- Mitochondrial
- Sub Category:
- Mitochondrial Genome
- Test type:
- Gene Panel
- Lab/Location:
- Hamilton Health Sciences Centre
Molar Pregnancy
- Category:
- Fertility\Reproductive
- Sub Category:
- Molar Pregnancy
- Test type:
- Other
- Lab/Location:
- North York General Hospital
Mosaic Karyotype
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Chromosomal Anomalies
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Mucolipidosis (Type IV)
- Category:
- Metabolic
- Sub Category:
- Mucolipidosis
- Test type:
- Targeted Variant
- Lab/Location:
- The Hospital for Sick Children
Mucopolysaccharidosis type 1
- Category:
- Metabolic
- Sub Category:
- Mucopolysaccharidosis type 1
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
Multiple Carboxylase Deficiency
- Category:
- Metabolic
- Sub Category:
- Organic Acid Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Multiple Endocrine Neoplasia Type 1
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Multiple Endocrine Neoplasia Type 1 & 4
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
- Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Multiple carboxylase Deficiency: Biotinidase Deficiency
- Category:
- Metabolic
- Sub Category:
- Organic Acid Disorders
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
Multiple carboxylase deficiency: Other
- Category:
- Metabolic
- Sub Category:
- Organic Acid Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Myotonic dystrophy type 1
- Category:
- Neurogenetics
- Sub Category:
- Myotonic dystrophy type 1
- Test type:
- Single Gene
- Lab/Location:
- Children's Hospital of Eastern Ontario
Myotonic dystrophy type 2
- Category:
- Neurogenetics
- Sub Category:
- Myotonic dystrophy type 2
- Test type:
- Single Gene
- Lab/Location:
- Children's Hospital of Eastern Ontario
NGS HCT Panel with Custom Manifests (tests with multiple indications)
- Category:
- Cancer
- Sub Category:
- Hereditary Comprehensive Cancer
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Neurofibromatosis Type 1/Legius Syndrome
- Category:
- Cancer
- Sub Category:
- Neurofibromatosis type 1
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Neurofibromatosis type 1
- Category:
- Cancer
- Sub Category:
- Neurofibromatosis type 1
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Neurofibromatosis type 1
- Category:
- Cancer
- Sub Category:
- Neurofibromatosis type 1
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Neurofibromatosis type 1
- Category:
- Cancer
- Sub Category:
- Neurofibromatosis type 1
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Neurofibromatosis type 1
- Category:
- Cancer
- Sub Category:
- Neurofibromatosis type 1
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Neurofibromatosis type 1
- Category:
- Cancer
- Sub Category:
- Neurofibromatosis type 1
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Neurofibromatosis, Type 1 (NF1)
- Category:
- Cancer
- Sub Category:
- Neurofibromatosis type 1
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome
- Category:
- Cancer
- Sub Category:
- Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome
- Category:
- Cancer
- Sub Category:
- Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome
- Category:
- Cancer
- Sub Category:
- Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Nevoid Basal Cell Carcinoma/ Gorlin Syndrome
- Category:
- Cancer
- Sub Category:
- Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Niemann-Pick Disease
- Category:
- Metabolic
- Sub Category:
- Niemann-Pick Disease
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Niemann-Pick Disease (Type A & B)
- Category:
- Metabolic
- Sub Category:
- Niemann-Pick Disease
- Test type:
- Targeted Variant
- Lab/Location:
- The Hospital for Sick Children
Nijmegen Breakage Syndrome
- Category:
- Cancer
- Sub Category:
- Nijmegen Breakage Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Nijmegen Breakage Syndrome
- Category:
- Cancer
- Sub Category:
- Nijmegen Breakage Syndrome
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Nijmegen Breakage Syndrome
- Category:
- Cancer
- Sub Category:
- Nijmegen Breakage Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Nijmegen Breakage Syndrome
- Category:
- Cancer
- Sub Category:
- Nijmegen Breakage Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Nijmegen Breakage Syndrome
- Category:
- Cancer
- Sub Category:
- Nijmegen Breakage Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Nijmegen Breakage syndrome (NBN)
- Category:
- Cancer
- Sub Category:
- Nijmegen Breakage syndrome
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Non-Syndromic Recessive Deafness
- Category:
- Audiology
- Sub Category:
- Non-Syndromic Hearing Loss
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Noonan Syndrome and RASopathies
- Category:
- Cardiogenetics , Immunity , Multiple Congenital Anomalies
- Sub Category:
- Noonan Syndrome and RASopathies
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Oculopharyngeal muscular dystrophy
- Category:
- Neurogenetics
- Sub Category:
- Oculopharyngeal muscular dystrophy (OPMD)
- Test type:
- Single Gene
- Lab/Location:
- Children's Hospital of Eastern Ontario
Oculopharyngeal muscular dystrophy (OPMD)
- Category:
- Neurogenetics
- Sub Category:
- Oculopharyngeal muscular dystrophy (OPMD)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Ornithine transcarbamylase deficiency
- Category:
- Metabolic
- Sub Category:
- Ornithine transcarbamylase deficiency
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
PKD Full Analysis
- Category:
- Renal
- Sub Category:
- Polycystic Kidney Disease
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
PKD1 Deletion/Duplication only
- Category:
- Renal
- Sub Category:
- Polycystic Kidney Disease
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
PKD1 Sequencing only
- Category:
- Renal
- Sub Category:
- Polycystic Kidney Disease
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
PKD2 Deletion/Duplication only
- Category:
- Renal
- Sub Category:
- Polycystic Kidney Disease
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
PKD2 Sequencing only
- Category:
- Renal
- Sub Category:
- Polycystic Kidney Disease
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
PKHD1 Deletion/Duplication only
- Category:
- Renal
- Sub Category:
- Polycystic Kidney Disease
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
PKHD1 Sequencing only
- Category:
- Renal
- Sub Category:
- Polycystic Kidney Disease
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
- PTEN Hamartoma Tumour Syndrome
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
- PTEN Hamartoma Tumour Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
- PTEN Hamartoma Tumour Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
- PTEN Hamartoma Tumour Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
- PTEN Hamartoma Tumour Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
- PTEN Hamartoma Tumour Syndrome
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Pancreatic Adenocarcinoma
- Category:
- Cancer
- Sub Category:
- Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Pancreatic Adenocarcinoma
- Category:
- Cancer
- Sub Category:
- Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Pediatric Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
- Cardiomyopathy
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Pediatric Cardiomyopathy and Arrythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
- Cardiomyopathy and Arrhythmia
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Pediatric Cardiomyopathy and Arrythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
- Cardiomyopathy and Arrhythmia
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Pediatric Cardiomyopathy panel
- Category:
- Cardiogenetics
- Sub Category:
- Cardiomyopathy
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Pediatric Hypertrophic Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
- Hypertrophic Cardiomyopathy
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Pediatric Hypertrophic Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
- Hypertrophic Cardiomyopathy
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Perinatal Chromosome Microarray
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Microduplication/deletion Syndrome- Perinatal
- Test type:
- Cytogenetic
- Lab/Location:
- Hamilton Health Sciences Centre
Perinatal rapid aneuploidy testing
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Aneuploidy Studies- Perinatal
- Test type:
- Other
- Lab/Location:
- Hamilton Health Sciences Centre
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
- Peutz-Jeghers Syndrome
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
- Peutz-Jeghers Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
- Peutz-Jeghers Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
- Peutz-Jeghers Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
- Peutz-Jeghers Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
- Peutz-Jeghers Syndrome
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Pharmacogenetic testing - DPYD
- Category:
- Pharmacogenetics
- Sub Category:
- Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
- Targeted Variant
- Lab/Location:
- University Health Network
Phenylketonuria
- Category:
- Metabolic
- Sub Category:
- Amino Acid Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Phenylketonuria: Biopterin deficiencies
- Category:
- Metabolic
- Sub Category:
- Amino Acid Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Phenylketonuria: PAH deficiency
- Category:
- Metabolic
- Sub Category:
- Amino Acid Disorders
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
Polyposis
- Category:
- Cancer
- Sub Category:
- Hereditary Polyposis Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Polyposis
- Category:
- Cancer
- Sub Category:
- Hereditary Polyposis Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Polyposis
- Category:
- Cancer
- Sub Category:
- Hereditary Polyposis Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Postnatal chromosome microarray
- Category:
- Chromosomal Anomalies , Neurodevelopmental
- Sub Category:
- Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- Hamilton Health Sciences Centre
Postnatal rapid aneuploidy testing
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Aneuploidy Studies
- Test type:
- Other
- Lab/Location:
- Hamilton Health Sciences Centre
Prader Willi syndrome
- Category:
- Neurodevelopmental
- Sub Category:
- Prader Willi syndrome
- Test type:
- Single Gene
- Lab/Location:
- Children's Hospital of Eastern Ontario
Prader-Willi Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
- Prader Willi syndrome
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Prader-Willi Syndrome - UPD
- Category:
- Chromosomal Anomalies
- Sub Category:
- Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Prenatal chromosome microarray
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Microduplication/deletion Syndrome- Prenatal
- Test type:
- Cytogenetic
- Lab/Location:
- Hamilton Health Sciences Centre
Prenatal rapid aneuploidy testing
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Aneuploidy Studies- Prenatal
- Test type:
- Other
- Lab/Location:
- Hamilton Health Sciences Centre
Primary immune deficiencies
- Category:
- Immunity
- Sub Category:
- Primary immune deficiencies
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Progressive Myoclonic Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
- Progressive Myoclonic Epilepsy
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Progressive external ophthalmoplegia (PEO) and Optic atrophy
- Category:
- Mitochondrial
- Sub Category:
- Mitochondrial nuclear gene
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Propionic / Methylmalonic acidemias
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Propionic / Methylmalonic acidemias: Isolated MMA
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Propionic / Methylmalonic acidemias: Isolated Propionic Acidemia
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Propionic / Methylmalonic acidemias: MMA and homocysteinemia
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Prothrombin Gene 20210A Mutation
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor II Prothrombin)
- Test type:
- Targeted Variant
- Lab/Location:
- North York General Hospital
Prothrombin Gene Mutation
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor II Prothrombin)
- Test type:
- Targeted Variant
- Lab/Location:
- Hamilton Health Sciences Centre
Prothrombin Mutation G20210A
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor II Prothrombin)
- Test type:
- Targeted Variant
- Lab/Location:
- St. Michael’s Hospital
Prothrombin Thrombophilia
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor II Prothrombin)
- Test type:
- Targeted Variant
- Lab/Location:
- London Health Sciences Centre
Pyruvate dehydrogenase complex deficiency
- Category:
- Mitochondrial
- Sub Category:
- Mitochondrial nuclear gene
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
RNA sequencing of whole transcriptome
- Category:
- Genome-wide
- Sub Category:
- Whole Transcriptome Sequencing
- Test type:
- Genome-wide
- Lab/Location:
- The Hospital for Sick Children
Rapid Aneuploidy Detection
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Aneuploidy Studies
- Test type:
- Other
- Lab/Location:
- Kingston General Hospital
Rapid Aneuploidy Detection
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Aneuploidy Studies
- Test type:
- Other
- Lab/Location:
- London Health Sciences Centre
Rapid Aneuploidy Detection
- Category:
- Chromosomal Anomalies , Fertility\Reproductive
- Sub Category:
- Aneuploidy Studies
- Lab:
- Mount Sinai Hospital
- Test type:
- Other
- Lab/Location:
- Mount Sinai Hospital
Rapid Aneuploidy Detection (RAD)
- Category:
- Chromosomal Anomalies , Fertility\Reproductive , Multiple Congenital Anomalies
- Sub Category:
- Aneuploidy Studies
- Test type:
- Other
- Lab/Location:
- Children's Hospital of Eastern Ontario
Rapid FISH: Ambiguous genitalia
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Disorders of Sex Development
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Rapid FISH: Bone Marrow Transplant
- Category:
- Chromosomal Anomalies
- Sub Category:
- FISH: Bone Marrow Transplant
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Rapid FISH: Trisomy 13
- Category:
- Chromosomal Anomalies
- Sub Category:
- Aneuploidy Studies
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Rapid FISH: Trisomy 18
- Category:
- Chromosomal Anomalies
- Sub Category:
- Aneuploidy Studies
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Rapid FISH: Trisomy 21
- Category:
- Chromosomal Anomalies
- Sub Category:
- Aneuploidy Studies
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
Rapid aneuploidy detection (chrs 21, 18, 13, X, Y)
- Category:
- Chromosomal Anomalies
- Sub Category:
- Aneuploidy Studies
- Test type:
- Other
- Lab/Location:
- North York General Hospital
Rare Familial Mutations
- Category:
- Genome-wide
- Sub Category:
- Known Familial Variant
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Rare Familial Mutations
- Category:
- Genome-wide
- Sub Category:
- Known Familial Variant
- Test type:
- Single Gene
- Lab/Location:
- Children's Hospital of Eastern Ontario
Rare Family Variant Sequencing
- Category:
- Genome-wide
- Sub Category:
- Known Familial Variant
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Rare Hereditary Polyposis Genes
- Category:
- Cancer
- Sub Category:
- Rare Polyposis Genes
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Rare Polyposis
- Category:
- Cancer
- Sub Category:
- Rare Polyposis Genes
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Rare Polyposis
- Category:
- Cancer
- Sub Category:
- Rare Polyposis Genes
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Rare Polyposis Genes
- Category:
- Cancer
- Sub Category:
- Rare Polyposis Genes
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Rare Polyposis Genes
- Category:
- Cancer
- Sub Category:
- Rare Polyposis Genes
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Rare Polyposis Genes
- Category:
- Cancer
- Sub Category:
- Rare Polyposis Genes
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Renal Disease: Focal Segmental Glomerulonephritis Syndrome (FSGS) and membranous nephropathies
- Category:
- Renal
- Sub Category:
- Focal Segmental Glomerulonephritis Syndrome (FSGS)
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Renal Disease: atypical Hemolytic Uremic Syndrome / C3 glomerulonephritis (aHUS/C3G)
- Category:
- Renal
- Sub Category:
- atypical Hemolytic Uremic Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Retinoblastoma
- Category:
- Cancer , Ophthalmology
- Sub Category:
- Retinoblastoma
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Retinoblastoma
- Category:
- Cancer , Ophthalmology
- Sub Category:
- Retinoblastoma
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Retinoblastoma
- Category:
- Cancer , Ophthalmology
- Sub Category:
- Retinoblastoma
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Retinoblastoma
- Category:
- Cancer , Ophthalmology
- Sub Category:
- Retinoblastoma
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Retinoblastoma
- Category:
- Cancer , Ophthalmology
- Sub Category:
- Retinoblastoma
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Retinoblastoma
- Category:
- Cancer
- Sub Category:
- Retinoblastoma
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Rhabdoid Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Rhabdoid Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Rhabdoid Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Rhabdoid Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Rhabdoid Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Rhabdoid Tumor Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Rhabdoid Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
- Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Russell Silver Syndrome
- Category:
- Skeletal\Growth
- Sub Category:
- Russell Silver Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- The Hospital for Sick Children
SCID ADA
- Category:
- Immunity , Metabolic
- Sub Category:
- Primary immune deficiencies
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
Schwannomatosis
- Category:
- Cancer
- Sub Category:
- Schwannomatosis
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Schwannomatosis
- Category:
- Cancer
- Sub Category:
- Schwannomatosis
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Schwannomatosis
- Category:
- Cancer
- Sub Category:
- Schwannomatosis
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Schwannomatosis
- Category:
- Cancer
- Sub Category:
- Schwannomatosis
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Schwannomatosis
- Sub Category:
- Schwannomatosis
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Schwannomatosis
- Category:
- Cancer
- Sub Category:
- Schwannomatosis
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
- Sessile Serrated Polyposis Cancer Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
- Sessile Serrated Polyposis Cancer Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
- Sessile Serrated Polyposis Cancer Syndrome
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
- Sessile Serrated Polyposis Cancer Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
- Sessile Serrated Polyposis Cancer Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
- Sessile Serrated Polyposis Cancer Syndrome
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Sexing PCR
- Category:
- Multipurpose
- Sub Category:
- Sexing PCR
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Shwachman-Diamond Syndrome
- Category:
- Hematology
- Sub Category:
- Shwachman-Diamond Syndrome
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis
- Category:
- Skeletal\Growth
- Sub Category:
- Simpson-Golabi-Behmel Syndrome
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Single Gene test: DPYD
- Category:
- Pharmacogenetics
- Sub Category:
- Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
- Targeted Variant
- Lab/Location:
- Sunnybrook Health Sciences Centre
Single Gene test: Factor V Leiden
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor V Leiden)
- Test type:
- Targeted Variant
- Lab/Location:
- Sunnybrook Health Sciences Centre
Single Gene test: HFE
- Category:
- Hematology
- Sub Category:
- Hereditary Hemochromatosis
- Test type:
- Targeted Variant
- Lab/Location:
- Sunnybrook Health Sciences Centre
Single Gene test: HLA-B*5701
- Category:
- Pharmacogenetics
- Sub Category:
- Abacavir hypersensitivity
- Test type:
- Targeted Variant
- Lab/Location:
- Sunnybrook Health Sciences Centre
Single Gene test: MTHFR
- Category:
- Hematology
- Sub Category:
- Thrombosis
- Test type:
- Targeted Variant
- Lab/Location:
- Sunnybrook Health Sciences Centre
Single Gene test: Prothrombin 20210
- Category:
- Hematology
- Sub Category:
- Thrombophilia (Factor II Prothrombin)
- Test type:
- Targeted Variant
- Lab/Location:
- Sunnybrook Health Sciences Centre
Single Gene test: TPMT
- Category:
- Pharmacogenetics
- Sub Category:
- Thiopurine S-methyltransferase deficiency (TPMT)
- Test type:
- Targeted Variant
- Lab/Location:
- Sunnybrook Health Sciences Centre
Single Gene tests (Hemoglobinopathies)
- Category:
- Hematology
- Sub Category:
- Hemoglobin Diseases
- Test type:
- Gene Panel
- Lab/Location:
- Hamilton Health Sciences Centre
Single Genetests (HFE)
- Category:
- Hematology
- Sub Category:
- Hereditary Hemochromatosis
- Test type:
- Targeted Variant
- Lab/Location:
- Hamilton Health Sciences Centre
Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Category:
- Cancer
- Sub Category:
- Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Category:
- Cancer
- Sub Category:
- Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Category:
- Cancer
- Sub Category:
- Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Category:
- Cancer
- Sub Category:
- Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Category:
- Cancer
- Sub Category:
- Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Category:
- Cancer
- Sub Category:
- Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Smith-Lemli-Opitz Syndrome
- Category:
- Metabolic
- Sub Category:
- Smith-Lemli-Opitz Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Hamilton Health Sciences Centre
Soft Tissue Cancer Panel
- Category:
- Cancer
- Sub Category:
- Hereditary Soft Tissue Sarcomas
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Soft Tissue Sarcoma
- Category:
- Cancer
- Sub Category:
- Hereditary Soft Tissue Sarcomas
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Soft Tissue Sarcoma
- Category:
- Cancer
- Sub Category:
- Hereditary Soft Tissue Sarcomas
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Spinal Muscular Atrophy
- Category:
- Neurogenetics
- Sub Category:
- Spinal Muscular Atrophy
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Spinal and Bulbar Muscular Atrophy (SBMA)
- Category:
- Neurogenetics
- Sub Category:
- Spinal and Bulbar Muscular Atrophy (SBMA)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Spinal and bulbar muscular atrophy (AR gene)
- Category:
- Neurogenetics
- Sub Category:
- Spinal and Bulbar Muscular Atrophy (SBMA)
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Spinal muscular atrophy
- Category:
- Neurogenetics
- Sub Category:
- Spinal muscular atrophy
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Spinocerebellar Ataxia panel (SCA)
- Category:
- Neurogenetics
- Sub Category:
- Spinocerebellar Ataxia (SCA)
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Spinocerebellar Ataxia type 1 (SCA1)
- Category:
- Neurogenetics
- Sub Category:
- Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Spinocerebellar Ataxia type 17 (SCA17)
- Category:
- Neurogenetics
- Sub Category:
- Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Spinocerebellar Ataxia type 2 (SCA2)
- Category:
- Neurogenetics
- Sub Category:
- Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Spinocerebellar Ataxia type 3 (SCA3)
- Category:
- Neurogenetics
- Sub Category:
- Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Spinocerebellar Ataxia type 6 (SCA6)
- Category:
- Neurogenetics
- Sub Category:
- Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Spinocerebellar Ataxia type 7 (SCA7)
- Category:
- Neurogenetics
- Sub Category:
- Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Spinocerebellar Ataxia type 8 (SCA8)
- Category:
- Neurogenetics
- Sub Category:
- Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Succinic semialdehyde dehydrogenase deficiency
- Category:
- Metabolic
- Sub Category:
- Organic Acid Disorders
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
TPMT Gene Mutation
- Category:
- Pharmacogenetics
- Sub Category:
- Thiopurine S-methyltransferase deficiency (TPMT)
- Test type:
- Single Gene
- Lab/Location:
- Hamilton Health Sciences Centre
TPMT/NUDT15 Panel (Pharmacogenetic testing)
- Category:
- Hematology
- Sub Category:
- TPMT/NUDT15 Panel (Pharmacogenetic testing)
- Test type:
- Gene Panel , Targeted Variant
- Lab/Location:
- The Hospital for Sick Children
Targeted Microarray
- Category:
- Chromosomal Anomalies , Neurodevelopmental
- Sub Category:
- Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
- Lab/Location:
- London Health Sciences Centre
Tay-Sachs Disease
- Category:
- Neurogenetics
- Sub Category:
- Tay-Sachs Disease
- Test type:
- Single Gene
- Lab/Location:
- The Hospital for Sick Children
Thanatophoric Dysplasia (Type I & II)
- Category:
- Skeletal\Growth
- Sub Category:
- Thanatophoric Dysplasia
- Test type:
- Gene Panel
- Lab/Location:
- The Hospital for Sick Children
Thoracic aneurisms and aortic dissections
- Category:
- Cardiogenetics
- Sub Category:
- Thoracic aneurisms and aortic dissections
- Test type:
- Gene Panel
- Lab/Location:
- Children's Hospital of Eastern Ontario
Thrombosis
- Category:
- Hematology
- Sub Category:
- Thrombosis
- Test type:
- Targeted Variant
- Lab/Location:
- University Health Network
Transcobalamin II Deficiency (TCN2 gene)
- Category:
- Metabolic
- Sub Category:
- Transcobalamin II Deficiency
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
- Tuberous Sclerosis
- Test type:
- Gene Panel
- Lab/Location:
- University Health Network
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
- Tuberous Sclerosis
- Test type:
- Gene Panel
- Lab/Location:
- North York General Hospital
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
- Tuberous Sclerosis
- Test type:
- Gene Panel
- Lab/Location:
- Kingston General Hospital
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
- Tuberous Sclerosis
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
- Tuberous Sclerosis
- Lab:
- Mount Sinai Hospital
- Test type:
- Gene Panel
- Lab/Location:
- Mount Sinai Hospital
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
- Tuberous Sclerosis
- Test type:
- Gene Panel
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Tyrosinemia
- Category:
- Metabolic
- Sub Category:
- Amino Acid Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Tyrosinemia: Elevated Succinylacetone
- Category:
- Metabolic
- Sub Category:
- Tyrosinemia
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Tyrosinemia: Elevated Tyrosine
- Category:
- Metabolic
- Sub Category:
- Tyrosinemia
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Uniparental Disomy (UPD)
- Category:
- Chromosomal Anomalies , Neurodevelopmental
- Sub Category:
- Uniparental Disomy
- Test type:
- Cytogenetic
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Uniparental Disomy (UPD) of chromosomes 14 and 15
- Category:
- Chromosomal Anomalies , Neurodevelopmental
- Sub Category:
- Uniparental Disomy: Chromosome 14 & 15
- Test type:
- Other
- Lab/Location:
- North York General Hospital
Urea Cycle Diseases: All
- Category:
- Metabolic
- Sub Category:
- Urea Cycle Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Urea Cycle Diseases: High ASA
- Category:
- Metabolic
- Sub Category:
- Urea Cycle Disorders
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
Urea Cycle Diseases: High Citrulline
- Category:
- Metabolic
- Sub Category:
- Urea Cycle Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Urea Cycle Diseases: Low citrulline
- Category:
- Metabolic
- Sub Category:
- Urea Cycle Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Urea Cycle Diseases: Other
- Category:
- Metabolic
- Sub Category:
- Urea Cycle Disorders
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
Urea Cycle Disorders
- Category:
- Metabolic
- Sub Category:
- Urea Cycle Disorders
- Test type:
- Gene Panel
- Lab/Location:
- London Health Sciences Centre
VLCAD deficiency
- Category:
- Metabolic
- Sub Category:
- Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
Very Long Chain acyl-CoA dehydrogenase Deficiency
- Category:
- Metabolic
- Sub Category:
- Very Long Chain acyl-CoA dehydrogenase Deficiency
- Test type:
- Single Gene
- Lab/Location:
- Hamilton Health Sciences Centre
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
- Von Hippel-Lindau Syndrome
- Test type:
- Single Gene
- Lab/Location:
- University Health Network
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
- Von Hippel-Lindau Syndrome
- Test type:
- Single Gene
- Lab/Location:
- London Health Sciences Centre
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
- Von Hippel-Lindau Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Kingston General Hospital
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
- Von Hippel-Lindau Syndrome
- Test type:
- Single Gene
- Lab/Location:
- Trillium Health Partners - Credit Valley Hospital
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
- Von Hippel-Lindau Syndrome
- Test type:
- Single Gene
- Lab/Location:
- North York General Hospital
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
- Von Hippel-Lindau Syndrome
- Lab:
- Mount Sinai Hospital
- Test type:
- Single Gene
- Lab/Location:
- Mount Sinai Hospital
WES (Singleton, Duo, Trio, Quad)
- Category:
- Genome-wide
- Sub Category:
- Whole Exome Sequencing (WES)
- Test type:
- Genome-wide
- Lab/Location:
- The Hospital for Sick Children
WGS (Singleton, Duo, Trio, Quad)
- Category:
- Genome-wide
- Sub Category:
- Whole Genome Sequencing (WGS)
- Test type:
- Genome-wide
- Lab/Location:
- The Hospital for Sick Children
Whole Exome Sequencing (WES)
- Category:
- Genome-wide
- Sub Category:
- Whole Exome Sequencing (WES)
- Test type:
- Genome-wide
- Lab/Location:
- Children's Hospital of Eastern Ontario
Whole Genome Sequencing (WGS)
- Category:
- Genome-wide
- Sub Category:
- Whole Genome Sequencing (WGS)
- Test type:
- Genome-wide
- Lab/Location:
- Children's Hospital of Eastern Ontario
X-Inactivation Analysis
- Category:
- Multipurpose
- Sub Category:
- X-Inactivation Analysis
- Test type:
- Other
- Lab/Location:
- The Hospital for Sick Children
b-ketothiolase deficiency
- Category:
- Metabolic
- Sub Category:
- Organic Acid Disorders
- Test type:
- Single Gene
- Lab/Location:
- Newborn Screening Ontario
karyotype (G-banding)
- Category:
- Chromosomal Anomalies
- Sub Category:
- Chromosomal Anomalies
- Test type:
- Cytogenetic
- Lab/Location:
- Hamilton Health Sciences Centre
mtDNA depletion and deletion
- Category:
- Mitochondrial
- Sub Category:
- Mitochondrial nuclear gene
- Test type:
- Gene Panel
- Lab/Location:
- Newborn Screening Ontario
von Willebrand disease
- Category:
- Hematology
- Sub Category:
- von Willebrand disease
- Test type:
- Single Gene
- Lab/Location:
- National Inherited Bleeding Disorder Genotyping Laboratory, KGH
Last Updated: June 25, 2025