22q11.2 Deletion Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
-
22q11.21 Deletion Syndrome
- Test type:
- Gene Panel
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.
Note: OntarioHealth.ca has transitioned to a redesigned site. We are aware that the search function for the Ontario Genetic Test Directory is no longer available. It is expected to return in a future phase of the redesign. We apologize for the inconvenience. In the meantime, please use the filters to assist in your search.
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Skeletal\Growth
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Immunity
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Showing
10
of
644
results
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
-
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Test type:
- Single Gene
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
-
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Test type:
- Single Gene
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
-
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Test type:
- Single Gene
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
-
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Test type:
- Single Gene
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
-
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Test type:
- Single Gene
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Category:
- Cancer
- Sub Category:
-
AXIN2-related Attenuated Familial Adenomatous Polyposis
- Lab:
- Test type:
- Single Gene
Achondroplasia / Hypochondroplasia
- Category:
- Skeletal\Growth
- Sub Category:
-
Achondroplasia and Hypochondroplasia
- Test type:
- Gene Panel
Actionable Gene Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
-
Actionable Epilepsy
- Test type:
- Gene Panel
Adenosine deaminase deficiency
- Category:
- Immunity, Metabolic
- Sub Category:
-
Adenosine Deaminase Deficiency (ADA)
- Test type:
- Single Gene
Adult Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Cardiomyopathy
- Test type:
- Gene Panel
Adult Cardiomyopathy and Arrythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Cardiomyopathy and Arrhythmia
- Test type:
- Gene Panel
Adult Cardiomyopathy and Arrythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Cardiomyopathy and Arrhythmia
- Test type:
- Gene Panel
Adult Cardiomyopathy panel
- Category:
- Cardiogenetics
- Sub Category:
-
Cardiomyopathy
- Test type:
- Gene Panel
Adult Hypertrophic Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Hypertrophic Cardiomyopathy
- Test type:
- Gene Panel
Adult Hypertrophic Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Hypertrophic Cardiomyopathy
- Test type:
- Gene Panel
Adult Mitochondrial Disease Nuclear Gene Panel
- Category:
- Mitochondrial
- Sub Category:
-
Mitochondrial nuclear gene
- Test type:
- Gene Panel
Aicardi-Goutieres syndrome
- Category:
- Immunity
- Sub Category:
-
Primary immune deficiencies
- Test type:
- Gene Panel
Alpha Thalassemia
- Category:
- Hematology
- Sub Category:
-
Alpha Thalassemia
- Test type:
- Gene Panel
Alpha-1-Antitrypsin Deficiency
- Category:
- Respiratory
- Sub Category:
-
Alpha-1-Antitrypsin Deficiency
- Test type:
- Single Gene
Amyloidosis
- Category:
- Renal
- Sub Category:
-
Amyloidosis
- Test type:
- Single Gene
Amyloidosis
- Category:
- Renal
- Sub Category:
-
Amyloidosis
- Test type:
- Single Gene
Amyloidosis panel
- Category:
- Renal
- Sub Category:
-
Amyloidosis
- Test type:
- Gene Panel
Aneuploidy Testing - Fetal Demise
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Aneuploidy Studies- Perinatal
- Test type:
- Other
Aneuploidy Testing - Post Natal
- Category:
- Chromosomal Anomalies
- Sub Category:
-
Aneuploidy Studies
- Test type:
- Other
Angelman Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
-
Angelman/Prader Willi Syndrome
- Test type:
- Single Gene
Angelman Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
-
Angelman Syndrome
- Test type:
- Single Gene
Angelman Syndrome - UPD
- Category:
- Chromosomal Anomalies
- Sub Category:
-
Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
- Test type:
- Other
Arginase Deficiency
- Category:
- Metabolic
- Sub Category:
-
Arginase Deficiency
- Test type:
- Single Gene
Arrhythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Arrhythmia
- Test type:
- Gene Panel
Arrhythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Arrhythmia
- Test type:
- Gene Panel
Arterial Tortuosity Syndrome
- Category:
- Cardiogenetics, Connective Tissue
- Sub Category:
-
Arterial Tortuosity Syndrome
- Test type:
- Single Gene
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
-
Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
-
Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
-
Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
-
Ashkenazi Jewish Panel
- Lab:
- Test type:
- Targeted Variant
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
-
Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
Ashkenazi Jewish Panel
- Category:
- Cancer
- Sub Category:
-
Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
Ashkenazi Jewish panel
- Category:
- Fertility\Reproductive
- Sub Category:
-
Ashkenazi Jewish Screening panel
- Test type:
- Targeted Variant, Gene Panel
Ataxia Telangiectasia /Nijmegen Breakage Syndrome
- Category:
- Neurogenetics
- Sub Category:
-
Ataxia Telangiectasia (Nijmegen Breakage Syndrome)
- Test type:
- Cytogenetic
Autoinflammatory Disease Panel: Recurrent Fever Syndrome
- Category:
- Immunity
- Sub Category:
-
Recurrent Fever Syndrome
- Test type:
- Gene Panel
Autoinflammatory Disease: AG Panel 4
- Category:
- Immunity
- Sub Category:
-
Aicardi-Goutieres Syndrome
- Test type:
- Gene Panel
Autoinflammatory Disease: AI Panel 3
- Category:
- Immunity
- Sub Category:
-
Autoinflammatory Disease
- Test type:
- Gene Panel
Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel
- Category:
- Immunity
- Sub Category:
-
Hemophagocytic Lymphohistiocytosis (HLH)
- Test type:
- Gene Panel
Autosomal dominant PKD Analysis
- Category:
- Renal
- Sub Category:
-
Polycystic Kidney Disease
- Lab:
- Test type:
- Gene Panel
Autosomal recessive PKD Analysis
- Category:
- Renal
- Sub Category:
-
Polycystic Kidney Disease
- Lab:
- Test type:
- Single Gene
BAP1 Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
BAP1 Tumour Predisposition Syndrome
- Test type:
- Single Gene
BAP1 Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
BAP1 Tumour Predisposition Syndrome
- Test type:
- Single Gene
BAP1 Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
BAP1 Tumour Predisposition Syndrome
- Lab:
- Test type:
- Single Gene
BAP1 Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
BAP1 Tumour Predisposition Syndrome
- Test type:
- Single Gene
BAP1 Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
BAP1 Tumour Predisposition Syndrome
- Test type:
- Single Gene
BAP1 Tumour Predisposition/ Mesothelioma
- Category:
- Cancer
- Sub Category:
-
BAP1 Tumour Predisposition Syndrome
- Test type:
- Single Gene
Basal Cell Nevus Syndrome
- Category:
- Cancer
- Sub Category:
-
Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Test type:
- Gene Panel
Batten Disease
- Category:
- Metabolic
- Sub Category:
-
Batten Disease (Neuronal Ceroid Lipofuscinoses)
- Test type:
- Gene Panel
Becker Muscular Dystrophy
- Category:
- Neurogenetics
- Sub Category:
-
Becker Muscular Dystrophy
- Test type:
- Single Gene
Beckwith-Wiedemann Syndrome
- Category:
- Skeletal\Growth
- Sub Category:
-
Beckwith-Wiedemann Syndrome
- Test type:
- Single Gene
Beta Thalassemia
- Category:
- Hematology
- Sub Category:
-
Beta Thalassemia
- Test type:
- Gene Panel
Biotinidase Deficiency (BTD gene)
- Category:
- Metabolic
- Sub Category:
-
Biotinidase Deficiency
- Test type:
- Single Gene
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
-
Birt-Hogg-Dube Syndrome
- Test type:
- Single Gene
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
-
Birt-Hogg-Dube Syndrome
- Test type:
- Single Gene
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
-
Birt-Hogg-Dube Syndrome
- Test type:
- Single Gene
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
-
Birt-Hogg-Dube Syndrome
- Test type:
- Single Gene
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
-
Birt-Hogg-Dube Syndrome
- Lab:
- Test type:
- Single Gene
Birt-Hogg-Dube Syndrome
- Category:
- Cancer
- Sub Category:
-
Birt-Hogg-Dube Syndrome
- Test type:
- Single Gene
Bloom Syndrome
- Category:
- Hematology
- Sub Category:
-
Bloom Syndrome
- Test type:
- Cytogenetic, Targeted Variant
Bone Marrow Transplant Testing (BMT)
- Category:
- Multipurpose
- Sub Category:
-
Bone Marrow Transplant Testing (BMT)
- Test type:
- Other
Brain Malformation Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
-
Brain Malformation Epilepsy
- Test type:
- Gene Panel
Brugada Syndrome Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Brugada Syndrome
- Test type:
- Single Gene
Brugada Syndrome Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Brugada Syndrome
- Test type:
- Single Gene
C9orf72-related disorders
- Category:
- Neurogenetics
- Sub Category:
-
C9orf72-related disorders
- Test type:
- Single Gene
CACT deficiency
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
CADASIL
- Category:
- Neurogenetics
- Sub Category:
-
CADASIL
- Test type:
- Single Gene
CMT/HMN/HSAN Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
CNS Tumour
- Category:
- Cancer
- Sub Category:
-
Hereditary Central Nervous System (CNS) Tumours
- Test type:
- Gene Panel
CPT1 deficiency
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
CPT2 deficiency
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
Canavan Disease
- Category:
- Skeletal\Growth
- Sub Category:
-
Canavan Disease
- Test type:
- Targeted Variant
Carney Complex
- Category:
- Cancer
- Sub Category:
-
Carney Complex
- Test type:
- Single Gene
Carney Complex
- Category:
- Cancer
- Sub Category:
-
Carney Complex
- Test type:
- Single Gene
Carney Complex
- Category:
- Cancer
- Sub Category:
-
Carney Complex
- Test type:
- Single Gene
Carney Complex
- Category:
- Cancer
- Sub Category:
-
Carney Complex
- Test type:
- Single Gene
Carney Complex
- Category:
- Cancer
- Sub Category:
-
Carney Complex
- Test type:
- Single Gene
Carney Complex
- Category:
- Cancer
- Sub Category:
-
Carney Complex
- Lab:
- Test type:
- Single Gene
Carnitine Uptake Deficiency
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- Test type:
- Gene Panel
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- Test type:
- Gene Panel
Central Nervous System Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Central Nervous System (CNS) Tumours
- Test type:
- Gene Panel
Charcot-Marie-Tooth Gene Panels
- Category:
- Neurogenetics
- Sub Category:
-
Charcot-Marie-Tooth disease
- Test type:
- Gene Panel
Childhood Onset Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
-
Childhood onset Epilepsy
- Test type:
- Gene Panel
Chondrodysplasia punctata 1
- Category:
- Skeletal\Growth
- Sub Category:
-
Chondrodysplasia punctata 1
- Test type:
- Single Gene
Chromosome analysis
- Category:
- Fertility\Reproductive
- Sub Category:
-
Chromosomal Anomalies
- Test type:
- Cytogenetic
Chronic Granulomatous Disease
- Category:
- Immunity
- Sub Category:
-
Primary immune deficiencies
- Test type:
- Gene Panel
Coagulation Panel (Factor II, Factor V, and MTHFR)
- Category:
- Hematology
- Sub Category:
-
Coagulation Panel
- Test type:
- Gene Panel
Comprehensive Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
Comprehensive Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
Comprehensive Cancer Panel (Germline)
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
Comprehensive Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
-
Epilepsy
- Test type:
- Gene Panel
Comprehensive Hereditary Breast/Ovarian and GI Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
- Category:
- Endocrinology
- Sub Category:
-
Congenital Adrenal Hyperplasia
- Test type:
- Single Gene
Congenital Adrenal Hyperplasia: Other
- Category:
- Endocrinology
- Sub Category:
-
Congenital Adrenal Hyperplasia
- Test type:
- Gene Panel
Congenital Muscle Diseases Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
Congenital Muscular Dystrophies Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
Congenital Muscular Dystrophy
- Category:
- Neurogenetics
- Sub Category:
-
Congenital Muscular Dystrophy
- Test type:
- Gene Panel
Congenital Myasthenic Syndromes Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
Congenital and Other Myopathies Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
Connective Tissue Disease: Bone Involvement Panel
- Category:
- Connective Tissue
- Sub Category:
-
Bone Involvement
- Test type:
- Gene Panel
Connective Tissue Disease: Ehlers-Danlos Syndrome Panel
- Category:
- Cardiogenetics, Connective Tissue
- Sub Category:
-
Ehlers-Danlos Syndrome
- Test type:
- Gene Panel
Connective Tissue Disease: Osteogenesis Imperfecta Panel
- Category:
- Connective Tissue
- Sub Category:
-
Osteogenesis Imperfecta
- Test type:
- Gene Panel
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
Constitutional Chromosome Analysis
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Chromosomal Anomalies
- Test type:
- Cytogenetic
Constitutional Chromosome Analysis (Karyotype)
- Category:
- Fertility\Reproductive, Limited Access
- Sub Category:
-
Chromosomal Anomalies
- Lab:
- Test type:
- Cytogenetic
Constitutional Chromosome Analysis, Routine GTG
- Category:
- Chromosomal Anomalies, Fertility\Reproductive, Limited Access
- Sub Category:
-
Chromosomal Anomalies
- Test type:
- Cytogenetic
Constitutional Chromosome Analysis, Routine GTG banding
- Category:
- Chromosomal Anomalies, Fertility\Reproductive, Limited Access
- Sub Category:
-
Chromosomal Anomalies
- Test type:
- Cytogenetic
Constitutional FISH Test: Wolf-Hirschhorn syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Wolf-Hirschhorn Syndrome
- Test type:
- Cytogenetic
Constitutional FISH panel: 22q11.21 Deletion Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
Constitutional FISH panel: Aneuvysion FISH
- Category:
- Chromosomal Anomalies
- Sub Category:
-
Aneuploidy Studies
- Test type:
- Cytogenetic
Constitutional FISH panel: Angelmans Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Angelman/Prader Willi Syndrome
- Test type:
- Cytogenetic
Constitutional FISH panel: Cri-du-Chat Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Cri-du-Chat Syndrome
- Test type:
- Cytogenetic
Constitutional FISH panel: Disorders of sex development
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Disorders of Sex Development
- Test type:
- Cytogenetic
Constitutional FISH panel: Kallmann Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Kallmann Syndrome
- Test type:
- Cytogenetic
Constitutional FISH panel: Prader-Willi Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Angelman/Prader Willi Syndrome
- Test type:
- Cytogenetic
Constitutional FISH panel: Smith-Magenis Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Smith-Magenis Syndrome
- Test type:
- Cytogenetic
Constitutional FISH panel: Steroid Sulfatase Deficiency
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Steroid Sulfatase Deficiency
- Test type:
- Cytogenetic
Constitutional FISH panel: Turners Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Turners Syndrome
- Test type:
- Cytogenetic
Constitutional FISH panel: Williams Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Williams Syndrome
- Test type:
- Cytogenetic
Constitutional FISH test: 22q11.21 Deletion Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
Constitutional FISH: 22q11.21 Deletion Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
Constitutional FISH: Disorders of sex development
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Disorders of Sex Development
- Test type:
- Cytogenetic
Constitutional FISH: Kallman Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Kallmann Syndrome
- Test type:
- Cytogenetic
Constitutional FISH: Miller-Dieker Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Miller-Dieker Syndrome
- Test type:
- Cytogenetic
Constitutional FISH: Prader Willi/Angelman Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Angelman/Prader Willi Syndrome
- Test type:
- Cytogenetic
Constitutional FISH: Smith-Magenis Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Smith-Magenis Syndrome
- Test type:
- Cytogenetic
Constitutional FISH: Williams Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Williams Syndrome
- Test type:
- Cytogenetic
Craniosynostosis Molecular Analysis
- Category:
- Skeletal\Growth
- Sub Category:
-
Craniosynostosis
- Test type:
- Gene Panel
Cystic Fibrosis
- Category:
- Respiratory
- Sub Category:
-
Cystic Fibrosis
- Test type:
- Single Gene
Cystic Fibrosis
- Category:
- Fertility\Reproductive, Respiratory
- Sub Category:
-
Cystic Fibrosis
- Test type:
- Targeted Variant
Cystinosis
- Category:
- Renal
- Sub Category:
-
Cystinosis
- Test type:
- Single Gene
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
-
DICER-associated Syndrome
- Test type:
- Single Gene
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
-
DICER-associated Syndrome
- Test type:
- Single Gene
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
-
DICER-associated Syndrome
- Lab:
- Test type:
- Single Gene
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
-
DICER-associated Syndrome
- Test type:
- Single Gene
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
-
DICER-associated Syndrome
- Test type:
- Single Gene
DICER-associated Syndrome
- Category:
- Cancer
- Sub Category:
-
DICER-associated Syndrome
- Test type:
- Single Gene
DPYD
- Category:
- Pharmacogenetics
- Sub Category:
-
Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
- Targeted Variant
DPYD
- Category:
- Pharmacogenetics
- Sub Category:
-
Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Lab:
- Test type:
- Targeted Variant
DPYD Genotyping
- Category:
- Pharmacogenetics
- Sub Category:
-
Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
- Targeted Variant
DPYD Genotyping
- Category:
- Pharmacogenetics
- Sub Category:
-
Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
- Targeted Variant
DPYD Genotyping
- Category:
- Pharmacogenetics
- Sub Category:
-
Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
- Targeted Variant
Deep Vein Thrombosis
- Category:
- Hematology
- Sub Category:
-
Thrombophilia (Factor II Prothrombin and V Leiden)
- Test type:
- Targeted Variant
Dentatorubral-pallidoluysian atrophy (DRPLA)
- Category:
- Neurogenetics
- Sub Category:
-
Dentatorubral-pallidoluysian atrophy
- Test type:
- Single Gene
Duchenne Muscular Dystrophy
- Category:
- Neurogenetics
- Sub Category:
-
Duchenne Muscular Dystrophy
- Test type:
- Single Gene
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
-
Dysplastic Nevus Syndrome
- Test type:
- Gene Panel
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
-
Dysplastic Nevus Syndrome
- Lab:
- Test type:
- Gene Panel
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
-
Dysplastic Nevus Syndrome
- Test type:
- Gene Panel
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
-
Dysplastic Nevus Syndrome
- Test type:
- Gene Panel
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
-
Dysplastic Nevus Syndrome
- Test type:
- Gene Panel
Dysplastic Nevus Syndrome
- Category:
- Cancer
- Sub Category:
-
Dysplastic Nevus Syndrome
- Test type:
- Gene Panel
Early Infantile Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
-
Early Infantile Epilepsy
- Test type:
- Gene Panel
Establish/Expand Cell line, Bank Cells and Sendout
- Category:
- Multipurpose
- Sub Category:
-
Cell Line
- Test type:
- Other
FISH Analysis
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
FISH Analysis - Cascade
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH- Cascade
- Test type:
- Cytogenetic
FISH: 22q11.21 Deletion Syndrome (DiGeorge)
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
FISH: Angelman Syndrome (AS)
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Angelman/Prader Willi Syndrome
- Test type:
- Cytogenetic
FISH: Cri-du-Chat Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Cri-du-Chat Syndrome
- Test type:
- Cytogenetic
FISH: DiGeorge Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: 22q11.21 Deletion Syndrome
- Test type:
- Cytogenetic
FISH: Disorders of sex development
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Disorders of Sex Development
- Test type:
- Cytogenetic
FISH: Disorders of sex development (SRY/DYZ1/DXZ1)
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
FISH: Disorders of Sex Development
- Test type:
- Cytogenetic
FISH: Kallmann Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Kallmann Syndrome
- Test type:
- Cytogenetic
FISH: Miller-Dieker syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Miller-Dieker Syndrome
- Test type:
- Cytogenetic
FISH: Phelan-McDermid syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Phelan-McDermid Syndrome
- Test type:
- Cytogenetic
FISH: Prader-Willi Syndrome (PWS)
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Angelman/Prader Willi Syndrome
- Test type:
- Cytogenetic
FISH: Saethre-Chotzen
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Saethre-Chotzen Syndrome
- Test type:
- Cytogenetic
FISH: Smith-Magenis Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Smith-Magenis Syndrome
- Test type:
- Cytogenetic
FISH: Smith-Magenis syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Smith-Magenis Syndrome
- Test type:
- Cytogenetic
FISH: Sotos syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Sotos Syndrome
- Test type:
- Cytogenetic
FISH: Steroid Sulfatase Deficiency
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Steroid Sulfatase Deficiency
- Test type:
- Cytogenetic
FISH: Williams Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Williams Syndrome
- Test type:
- Cytogenetic
FISH: Williams syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Williams Syndrome
- Test type:
- Cytogenetic
FISH: Wolf-Hirschhorn Syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Wolf-Hirschhorn Syndrome
- Test type:
- Cytogenetic
FISH: Wolf-Hirschhorn syndrome
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Wolf-Hirschhorn Syndrome
- Test type:
- Cytogenetic
Fabry Disease
- Category:
- Metabolic
- Sub Category:
-
Fabry Disease
- Test type:
- Single Gene
Facioscapulohumeral Muscular Dystrophy
- Category:
- Neurogenetics
- Sub Category:
-
Facioscapulohumeral Muscular Dystrophy
- Test type:
- Cytogenetic
Factor II/Factor V
- Category:
- Limited Access
- Sub Category:
-
Thrombophilia (Factor II Prothrombin and V Leiden)
- Test type:
- Targeted Variant
Factor V Leiden
- Category:
- Hematology
- Sub Category:
-
Thrombophilia (Factor V Leiden)
- Test type:
- Single Gene
Factor V Leiden
- Category:
- Hematology
- Sub Category:
-
Thrombophilia (Factor V Leiden)
- Test type:
- Targeted Variant
Factor V Leiden
- Category:
- Hematology
- Sub Category:
-
Thrombophilia (Factor V Leiden)
- Test type:
- Targeted Variant
Factor V Leiden & Factor II Prothrombin
- Category:
- Hematology
- Sub Category:
-
Thrombophilia (Factor II Prothrombin and V Leiden)
- Lab:
- Test type:
- Targeted Variant
Factor V Leiden Thrombophilia
- Category:
- Hematology
- Sub Category:
-
Thrombophilia (Factor V Leiden)
- Test type:
- Targeted Variant
Familial Adenomatous Polyposis (CHRPE, CMV Thyroid, Desmoid)
- Category:
- Cancer
- Sub Category:
-
Familial Adenomatous Polyposis
- Test type:
- Single Gene
Familial Adenomatous Polyposis (CHRPE, CMV Thyroid, Desmoid)
- Category:
- Cancer
- Sub Category:
-
Familial Adenomatous Polyposis
- Lab:
- Test type:
- Single Gene
Familial Adenomatous Polyposis (CHRPE, CMV Thyroid, Desmoid) Panel
- Category:
- Cancer
- Sub Category:
-
Familial Adenomatous Polyposis
- Test type:
- Gene Panel
Familial Adenomatous Polyposis (CHRPE, CMV Thyroid, Desmoid) with MUTYH
- Category:
- Cancer
- Sub Category:
-
Familial Adenomatous Polyposis
- Test type:
- Gene Panel
Familial Adenomatous Polyposis (CHRPE, CMV Thyroid, Desmoid) with MUTYH
- Category:
- Cancer
- Sub Category:
-
Familial Adenomatous Polyposis
- Lab:
- Test type:
- Gene Panel
Familial Adenomatous Polyposis (FAP)
- Category:
- Cancer
- Sub Category:
-
Familial Adenomatous Polyposis
- Test type:
- Gene Panel
Familial Adenomatous Polyposis Panel
- Category:
- Cancer
- Sub Category:
-
Familial Adenomatous Polyposis
- Test type:
- Gene Panel
Familial Adenomatous Polyposis Panel
- Category:
- Cancer
- Sub Category:
-
Familial Adenomatous Polyposis
- Test type:
- Gene Panel
Familial Dysautonomia
- Category:
- Neurogenetics
- Sub Category:
-
Familial Dysautonomia
- Test type:
- Targeted Variant
Familial GI Cancer (Lynch syndrome, Gastric, Pancreas, Polyposis)
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastrointestinal Cancer
- Test type:
- Gene Panel
Familial Gastrointestinal Stromal Panel
- Category:
- Cancer
- Sub Category:
-
Familial Gastrointestinal Stromal (GIST)
- Test type:
- Gene Panel
Familial Gastrointestinal Stromal Panel
- Category:
- Cancer
- Sub Category:
-
Familial Gastrointestinal Stromal (GIST)
- Test type:
- Gene Panel
Familial Gastrointestinal Stromal Tumour
- Category:
- Cancer
- Sub Category:
-
Familial Gastrointestinal Stromal (GIST)
- Test type:
- Gene Panel
Familial Gastrointestinal Stromal Tumour
- Category:
- Cancer
- Sub Category:
-
Familial Gastrointestinal Stromal (GIST)
- Test type:
- Gene Panel
Familial Gastrointestinal Stromal Tumour
- Category:
- Cancer
- Sub Category:
-
Familial Gastrointestinal Stromal (GIST)
- Lab:
- Test type:
- Gene Panel
Familial Gastrointestinal Stromal Tumour
- Category:
- Cancer
- Sub Category:
-
Familial Gastrointestinal Stromal (GIST)
- Test type:
- Gene Panel
Familial Hypercholesterolemia
- Category:
- Endocrinology
- Sub Category:
-
Familial Hypercholesterolemia
- Test type:
- Gene Panel
Familial Hypercholesterolemia
- Category:
- Endocrinology
- Sub Category:
-
Familial Hypercholesterolemia
- Test type:
- Gene Panel
Familial Hypercholesterolemia
- Category:
- Endocrinology
- Sub Category:
-
Familial Hypercholesterolemia
- Test type:
- Gene Panel
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
-
Familial Isolated Pituitary Adenoma
- Lab:
- Test type:
- Single Gene
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
-
Familial Isolated Pituitary Adenoma
- Test type:
- Single Gene
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
-
Familial Isolated Pituitary Adenoma
- Test type:
- Single Gene
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
-
Familial Isolated Pituitary Adenoma
- Test type:
- Single Gene
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
-
Familial Isolated Pituitary Adenoma
- Test type:
- Single Gene
Familial Isolated Pituitary Adenoma
- Category:
- Cancer
- Sub Category:
-
Familial Isolated Pituitary Adenoma
- Test type:
- Single Gene
Familial Melanoma
- Category:
- Cancer
- Sub Category:
-
Familial Melanoma
- Lab:
- Test type:
- Gene Panel
Familial Melanoma
- Category:
- Cancer
- Sub Category:
-
Familial Melanoma
- Test type:
- Gene Panel
Familial Melanoma
- Category:
- Cancer
- Sub Category:
-
Familial Melanoma
- Test type:
- Gene Panel
Familial Melanoma
- Category:
- Cancer
- Sub Category:
-
Familial Melanoma
- Test type:
- Gene Panel
Familial Melanoma Panel
- Category:
- Cancer
- Sub Category:
-
Familial Melanoma
- Test type:
- Gene Panel
Familial Melanoma Panel
- Category:
- Cancer
- Sub Category:
-
Familial Melanoma
- Test type:
- Gene Panel
Familial Renal Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Renal Cancer
- Lab:
- Test type:
- Gene Panel
Familial Renal Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Renal Cancer
- Test type:
- Gene Panel
Familial Renal Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Renal Cancer
- Test type:
- Gene Panel
Familial Renal Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Renal Cancer
- Test type:
- Gene Panel
Familial Renal Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
Familial Renal Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Renal Cancer
- Test type:
- Gene Panel
Familial Soft Tissue Cancers
- Category:
- Cancer
- Sub Category:
-
Hereditary Soft Tissue Sarcomas
- Test type:
- Gene Panel
Fanconi Anemia (DEB, MMC)
- Category:
- Hematology
- Sub Category:
-
Fanconi Anemia
- Test type:
- Cytogenetic
Fanconi Anemia Group C
- Category:
- Hematology
- Sub Category:
-
Fanconi Anemia
- Test type:
- Targeted Variant
Fatty Acid Oxidation Diseases: Other
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
Focal Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
-
Focal Epilepsy
- Test type:
- Gene Panel
Fragile X (FMR1 gene)
- Category:
- Neurodevelopmental
- Sub Category:
-
Fragile X Syndrome
- Test type:
- Single Gene
Fragile X (FMR1 gene)
- Category:
- Neurodevelopmental
- Sub Category:
-
Fragile X Syndrome
- Test type:
- Single Gene
Fragile X E (FMR2 gene)
- Category:
- Neurodevelopmental
- Sub Category:
-
Fragile X Syndrome
- Test type:
- Single Gene
Fragile X Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
-
Fragile X Syndrome
- Test type:
- Single Gene
Fragile X Syndrome (FMR1 gene)
- Category:
- Neurodevelopmental
- Sub Category:
-
Fragile X Syndrome
- Test type:
- Single Gene
Fragile X-associated Premature Ovarian Insufficiency (FXPOI)
- Category:
- Fertility\Reproductive, Neurodevelopmental
- Sub Category:
-
Fragile X Syndrome
- Test type:
- Single Gene
Fragile X-associated tremor/ataxia syndrome
- Category:
- Neurodevelopmental, Neurogenetics
- Sub Category:
-
Fragile X Syndrome
- Test type:
- Single Gene
Friedreich's Ataxia (FRDA)
- Category:
- Neurogenetics
- Sub Category:
-
Friedreich's Ataxia (FRDA)
- Test type:
- Single Gene
Full mitochondrial nuclear gene panel
- Category:
- Mitochondrial
- Sub Category:
-
Mitochondrial nuclear gene
- Test type:
- Gene Panel
GALT deficiency
- Category:
- Metabolic
- Sub Category:
-
Galactosemia
- Test type:
- Single Gene
GAMT deficiency
- Category:
- Metabolic
- Sub Category:
-
Organic Acid Disorders
- Test type:
- Single Gene
GTP Cyclohydrolase-1 related disorders (GCH1)
- Category:
- Neurogenetics
- Sub Category:
-
GTP Cyclohydrolase-1 related disorders
- Test type:
- Single Gene
Galactose-1-Phosphate Uridyl Transferase Deficiency
- Category:
- Metabolic
- Sub Category:
-
Galactose-1-Phosphate Uridyl Transferase Deficiency
- Test type:
- Single Gene
Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)
- Category:
- Metabolic
- Sub Category:
-
Galactosemia
- Test type:
- Targeted Variant
Galactosemia: Other
- Category:
- Metabolic
- Sub Category:
-
Galactosemia
- Test type:
- Gene Panel
Gamma Polymerase Deficiency
- Category:
- Metabolic
- Sub Category:
-
Gamma Polymerase Deficiency (POLG)
- Test type:
- Single Gene
Gastric Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastric Cancer
- Test type:
- Gene Panel
Gastric Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastric Cancer
- Test type:
- Gene Panel
General Comprehensive Hereditary Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
Genetics - Microarray-constitutional, whole genome
- Category:
- Chromosomal Anomalies, Neurodevelopmental
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
Genetics - microarray-prenatal, whole genome
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome- Prenatal
- Test type:
- Cytogenetic
Genomic SNP Microarray - Follow-Up - Blood, Tissue
- Category:
- Chromosomal Anomalies
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
Genomic SNP Microarray - Proband - Blood, Tissue
- Category:
- Chromosomal Anomalies, Neurodevelopmental
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
Glutaric Aciduria Type 1
- Category:
- Metabolic
- Sub Category:
-
Organic Acid Disorders
- Test type:
- Single Gene
Glutaric Aciduria type I (GCDH gene)
- Category:
- Metabolic
- Sub Category:
-
Glutaric Aciduria type I
- Test type:
- Single Gene
Glycogen Storage Disease Type 4
- Category:
- Metabolic
- Sub Category:
-
Glycogen Storage Disease Type 4
- Test type:
- Single Gene
Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome)
- Category:
- Cancer
- Sub Category:
-
Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Test type:
- Gene Panel
HCT Full Panel (76 Genes)
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Lab:
- Test type:
- Gene Panel
Haemochromatosis
- Category:
- Hematology
- Sub Category:
-
Hereditary Hemochromatosis
- Test type:
- Targeted Variant
Hearing Loss, Non-Syndromic (GJB2 (including GJB6 del) and SLC26A4)
- Category:
- Audiology
- Sub Category:
-
Non-Syndromic Hearing Loss
- Test type:
- Gene Panel
Hemochromatosis
- Category:
- Hematology
- Sub Category:
-
Hereditary Hemochromatosis
- Test type:
- Targeted Variant
Hemochromatosis
- Category:
- Hematology
- Sub Category:
-
Hereditary Hemochromatosis
- Test type:
- Targeted Variant
Hemochromatosis Genotype
- Category:
- Hematology
- Sub Category:
-
Hereditary Hemochromatosis
- Lab:
- Test type:
- Targeted Variant
Hemoglobin Variants
- Category:
- Fertility\Reproductive, Hematology
- Sub Category:
-
Hemoglobin Diseases
- Test type:
- Gene Panel
Hemophilia A
- Category:
- Hematology
- Sub Category:
-
Hemophilia A
- Test type:
- Single Gene
Hemophilia B
- Category:
- Hematology
- Sub Category:
-
Hemophilia B
- Test type:
- Single Gene
Herditary Polyposis Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Polyposis Syndrome
- Test type:
- Gene Panel
Hereditary Breast/ Ovarian/ Prostate Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Breast, Ovarian, Prostate Cancer
- Lab:
- Test type:
- Gene Panel
Hereditary Breast/ Ovarian/ Prostate/ Gastrointestinal Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Lab:
- Test type:
- Gene Panel
Hereditary Breast/ Ovarian/ Prostate/ Melanoma Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Lab:
- Test type:
- Gene Panel
Hereditary Breast/Ovarian & Prostate Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Breast, Ovarian, Prostate Cancer
- Test type:
- Gene Panel
Hereditary Breast/Ovarian/Prostate Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Breast, Ovarian, Prostate Cancer
- Test type:
- Gene Panel
Hereditary Breast/Ovarian/Prostate Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Breast, Ovarian, Prostate Cancer
- Test type:
- Gene Panel
Hereditary Breast/Ovarian/Prostate Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Breast, Ovarian, Prostate Cancer
- Test type:
- Gene Panel
Hereditary Breast/Ovarian/Prostate Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Breast, Ovarian, Prostate Cancer
- Test type:
- Gene Panel
Hereditary Breast/Ovarian/Prostate/GI Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Breast, Ovarian, Prostate, GI Cancer
- Test type:
- Gene Panel
Hereditary CNS Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Central Nervous System (CNS) Tumours
- Test type:
- Gene Panel
Hereditary Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
Hereditary Cancer Panel: BRCA1/BRCA2 Ashkenazi Jewish mutations panel
- Category:
- Cancer
- Sub Category:
-
Ashkenazi Jewish Panel
- Test type:
- Targeted Variant
Hereditary Cancer Panel: Hereditary Breast/ Ovarian/ Prostate (HBOPC)
- Category:
- Cancer
- Sub Category:
-
Breast, Ovarian, Prostate
- Test type:
- Gene Panel
Hereditary Cancer Panel: Hereditary Pancreatic Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
Hereditary Central Nervous System Tumour
- Category:
- Cancer
- Sub Category:
-
Hereditary Central Nervous System (CNS) Tumours
- Lab:
- Test type:
- Gene Panel
Hereditary Central Nervous System Tumour
- Category:
- Cancer
- Sub Category:
-
Hereditary Central Nervous System (CNS) Tumours
- Test type:
- Gene Panel
Hereditary Central Nervous System Tumours
- Category:
- Cancer
- Sub Category:
-
Hereditary Central Nervous System (CNS) Tumours
- Test type:
- Gene Panel
Hereditary Comprehensive Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Test type:
- Gene Panel
Hereditary Endometrial Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Endometrial Cancer
- Test type:
- Gene Panel
Hereditary Endometrial Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Endometrial Cancer
- Lab:
- Test type:
- Gene Panel
Hereditary Endometrial Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Endometrial Cancer
- Test type:
- Gene Panel
Hereditary Endometrial Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Endometrial
- Test type:
- Gene Panel
Hereditary Endometrial Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Endometrial Cancer
- Test type:
- Gene Panel
Hereditary Endometrial Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Endometrial
- Test type:
- Gene Panel
Hereditary GI (Lynch syndrome, Gastric, Pancreas, Polyposis) Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastrointestinal Cancer
- Test type:
- Gene Panel
Hereditary GI (Lynch syndrome, Gastric, Pancreas, Polyposis) Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastrointestinal Cancer
- Test type:
- Gene Panel
Hereditary GI Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastrointestinal Cancer
- Test type:
- Gene Panel
Hereditary Gastric Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastric Cancer
- Test type:
- Gene Panel
Hereditary Gastric Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastric Cancer
- Lab:
- Test type:
- Gene Panel
Hereditary Gastric Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastric Cancer
- Test type:
- Gene Panel
Hereditary Gastric Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastric Cancer
- Test type:
- Gene Panel
Hereditary Gastrointestinal Cancer (Lynch Syndrome, Gastric, Pancreas, Polyposis)
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastrointestinal Cancer
- Lab:
- Test type:
- Gene Panel
Hereditary Gastrointestinal Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Gastrointestinal Cancer
- Test type:
- Gene Panel
Hereditary Hearing Loss: Common and Non-Syndromic Hearing Loss Panel
- Category:
- Audiology
- Sub Category:
-
Common and Non-Syndromic Hearing Loss
- Test type:
- Gene Panel
Hereditary Hearing Loss: Stickler Syndrome
- Category:
- Audiology, Connective Tissue
- Sub Category:
-
Stickler Syndrome
- Test type:
- Gene Panel
Hereditary Hearing Loss: Syndromic Hearing Loss
- Category:
- Audiology
- Sub Category:
-
Syndromic Hearing Loss
- Test type:
- Gene Panel
Hereditary Hearing Loss: Usher Syndrome
- Category:
- Audiology
- Sub Category:
-
Usher Syndrome
- Test type:
- Gene Panel
Hereditary Hemochromatosis
- Category:
- Hematology
- Sub Category:
-
Hereditary Hemochromatosis
- Test type:
- Targeted Variant
Hereditary Hemochromatosis
- Category:
- Hematology
- Sub Category:
-
Hereditary Hemochromatosis
- Test type:
- Targeted Variant
Hereditary Hemochromatosis
- Category:
- Hematology, Limited Access
- Sub Category:
-
Hereditary Hemochromatosis
- Test type:
- Targeted Variant
Hereditary Hemolytic Anemia Panel
- Category:
- Hematology
- Sub Category:
-
Hereditary Anemia
- Test type:
- Gene Panel
Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG
- Category:
- Hematology
- Sub Category:
-
Hereditary Hemorrhagic Telangiectasia (HHT)
- Test type:
- Gene Panel
Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing
- Category:
- Hematology
- Sub Category:
-
Hereditary Hemorrhagic Telangiectasia (HHT)
- Test type:
- Single Gene
Hereditary Hyperparathyroidism
- Category:
- Cancer
- Sub Category:
-
Hereditary Hyperparathyroidism
- Test type:
- Gene Panel
Hereditary Hyperparathyroidism
- Category:
- Cancer
- Sub Category:
-
Hereditary Hyperparathyroidism
- Lab:
- Test type:
- Gene Panel
Hereditary Hyperparathyroidism
- Category:
- Cancer
- Sub Category:
-
Hereditary Hyperparathyroidism
- Test type:
- Gene Panel
Hereditary Hyperparathyroidism
- Category:
- Endocrinology
- Sub Category:
-
Hereditary Hyperparathyroidism
- Test type:
- Gene Panel
Hereditary Hyperparathyroidism
- Category:
- Cancer
- Sub Category:
-
Hereditary Hyperparathyroidism
- Test type:
- Gene Panel
Hereditary Hyperparathyroidism
- Category:
- Cancer
- Sub Category:
-
Hereditary Hyperparathyroidism
- Test type:
- Gene Panel
Hereditary Leiomyomatosis and Renal Cell Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Leiomyomatosis and Renal Cell Cancer
- Test type:
- Single Gene
Hereditary Leiomyomatosis and Renal Cell Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Leiomyomatosis and Renal Cell Cancer
- Test type:
- Single Gene
Hereditary Leiomyomatosis and Renal Cell Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Leiomyomatosis and Renal Cell Cancer
- Lab:
- Test type:
- Single Gene
Hereditary Leiomyomatosis and Renal Cell Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Leiomyomatosis and Renal Cell Cancer
- Test type:
- Single Gene
Hereditary Leiomyomatosis and Renal Cell Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Leiomyomatosis and Renal Cell Cancer
- Test type:
- Single Gene
Hereditary Leiomyomatosis and Renal Cell Carcinoma
- Category:
- Cancer
- Sub Category:
-
Hereditary Leiomyomatosis and Renal Cell Cancer
- Test type:
- Single Gene
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Lung Cancer
- Test type:
- Single Gene
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Lung Cancer
- Test type:
- Single Gene
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Lung Cancer
- Lab:
- Test type:
- Single Gene
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Lung Cancer
- Test type:
- Single Gene
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Lung Cancer
- Test type:
- Targeted Variant
Hereditary Lung Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Lung Cancer
- Test type:
- Targeted Variant
Hereditary Lynch Syndrome Panel
- Category:
- Cancer
- Sub Category:
-
Lynch Syndrome
- Test type:
- Gene Panel
Hereditary Pancreatic Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
Hereditary Pancreatic Cancer
- Category:
- Cancer
- Sub Category:
-
Hereditary Pancreatic Cancer (Adenocarcinoma)
- Lab:
- Test type:
- Gene Panel
Hereditary Pancreatic Cancer Panel (Adenocarcinoma)
- Category:
- Cancer
- Sub Category:
-
Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
Hereditary Pancreatic Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
Hereditary Pheochromocytoma and Paraganglioma
- Category:
- Cancer
- Sub Category:
-
Hereditary Pheochromocytoma and Paraganglioma
- Lab:
- Test type:
- Gene Panel
Hereditary Pheochromocytoma and Paraganglioma
- Category:
- Cancer
- Sub Category:
-
Hereditary Pheochromocytoma and Paraganglioma
- Test type:
- Gene Panel
Hereditary Pheochromocytoma and Paraganglioma
- Category:
- Cancer
- Sub Category:
-
Hereditary Pheochromocytoma and Paraganglioma
- Test type:
- Gene Panel
Hereditary Pheochromocytoma and Paraganglioma Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Pheochromocytoma and Paraganglioma
- Test type:
- Gene Panel
Hereditary Pheochromocytoma and Paraganglioma Syndrome
- Category:
- Cancer
- Sub Category:
-
Hereditary Pheochromocytoma and Paraganglioma
- Test type:
- Gene Panel
Hereditary Pheochromocytoma/Paraganglioma Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Pheochromocytoma and Paraganglioma
- Test type:
- Gene Panel
Hereditary Polyposis
- Category:
- Cancer
- Sub Category:
-
Hereditary Polyposis Syndrome
- Lab:
- Test type:
- Gene Panel
Hereditary Polyposis Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Polyposis Syndrome
- Test type:
- Gene Panel
Hereditary Soft Tissue Carcinoma Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Soft Tissue Sarcomas
- Test type:
- Gene Panel
Hereditary Soft Tissue Tumour
- Category:
- Cancer
- Sub Category:
-
Hereditary Soft Tissue Sarcomas
- Lab:
- Test type:
- Gene Panel
Hereditary Spastic Paraplegia: Comprehensive
- Category:
- Neurogenetics
- Sub Category:
-
Hereditary Spastic Paraplegia
- Test type:
- Gene Panel
Hereditary Thrombophilia
- Category:
- Hematology
- Sub Category:
-
Thrombophilia (Factor II Prothrombin and V Leiden)
- Test type:
- Targeted Variant
Hereditary sensory neuropathy type IA
- Category:
- Neurogenetics
- Sub Category:
-
Hereditary Sensory Neuropathy
- Test type:
- Single Gene
Homocystinuria
- Category:
- Metabolic
- Sub Category:
-
Amino Acid Disorders
- Test type:
- Gene Panel
Homocystinuria: Hypermethioninemia
- Category:
- Metabolic
- Sub Category:
-
Amino Acid Disorders
- Test type:
- Gene Panel
Homocystinuria: Hypomethioninemia
- Category:
- Metabolic
- Sub Category:
-
Amino Acid Disorders
- Test type:
- Gene Panel
Huntington Disease (HD)
- Category:
- Neurogenetics
- Sub Category:
-
Huntington Disease (HD)
- Test type:
- Single Gene
Hydroxyglutaric Aciduria
- Category:
- Mitochondrial
- Sub Category:
-
Mitochondrial nuclear gene
- Test type:
- Gene Panel
Hyperferritinemia Cataract Syndrome
- Category:
- Ophthalmology
- Sub Category:
-
Hyperferritinemia Cataract Syndrome
- Test type:
- Single Gene
Hyperkalemic periodic paralysis, type 2
- Category:
- Neurogenetics
- Sub Category:
-
Hyperkalemic periodic paralysis
- Test type:
- Single Gene
Identity Testing
- Category:
- Multipurpose
- Sub Category:
-
Identity testing
- Test type:
- Other
Identity testing
- Category:
- Multipurpose
- Sub Category:
-
Identity testing
- Test type:
- Other
Identity/Zygosity Testing
- Category:
- Multipurpose
- Sub Category:
-
Identity testing
- Test type:
- Other
Isobutyryl-CoA dehydrogenase deficiency
- Category:
- Metabolic
- Sub Category:
-
Organic Acid Disorders
- Test type:
- Single Gene
Isovaleric acidemia
- Category:
- Metabolic
- Sub Category:
-
Organic Acid Disorders
- Test type:
- Gene Panel
Karyotype
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Chromosomal Anomalies
- Test type:
- Cytogenetic
Karyotype, GTG-banding
- Category:
- Chromosomal Anomalies
- Sub Category:
-
Chromosomal Anomalies
- Test type:
- Cytogenetic
LCHAD/MTP deficiency
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
Lesch-Nyhan syndrome
- Category:
- Metabolic
- Sub Category:
-
Lesch-Nyhan syndrome
- Test type:
- Single Gene
Li-Fraumeni
- Category:
- Cancer
- Sub Category:
-
Li-Fraumeni Syndrome
- Test type:
- Single Gene
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
-
Li-Fraumeni Syndrome
- Test type:
- Single Gene
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
-
Li-Fraumeni Syndrome
- Lab:
- Test type:
- Single Gene
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
-
Li-Fraumeni Syndrome
- Test type:
- Single Gene
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
-
Li-Fraumeni Syndrome
- Test type:
- Single Gene
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
-
Li-Fraumeni Syndrome
- Test type:
- Single Gene
Li-Fraumeni Syndrome
- Category:
- Cancer
- Sub Category:
-
Li-Fraumeni Syndrome
- Test type:
- Single Gene
Loeys-Dietz Syndrome
- Category:
- Cardiogenetics, Connective Tissue
- Sub Category:
-
Loeys-Dietz Syndrome
- Test type:
- Gene Panel
Long QT Syndrome Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Long QT Syndrome
- Test type:
- Gene Panel
Long QT Syndrome Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Long QT Syndrome
- Test type:
- Gene Panel
Lynch Syndrome
- Category:
- Cancer
- Sub Category:
-
Lynch Syndrome
- Test type:
- Gene Panel
Lynch Syndrome
- Category:
- Cancer
- Sub Category:
-
Lynch Syndrome
- Lab:
- Test type:
- Gene Panel
Lynch Syndrome Panel
- Category:
- Cancer
- Sub Category:
-
Lynch Syndrome
- Test type:
- Gene Panel
Lynch Syndrome Panel
- Category:
- Cancer
- Sub Category:
-
Lynch Syndrome
- Test type:
- Gene Panel
Lynch Syndrome Panel
- Category:
- Cancer
- Sub Category:
-
Lynch Syndrome
- Test type:
- Gene Panel
Lysosomal Storage Disorders
- Category:
- Metabolic
- Sub Category:
-
Lysosomal Storage Disorders
- Test type:
- Gene Panel
MADD/Glutaric aciduria type 2
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
MCAD deficiency
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
MECP2 - Rett Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
-
Rett Syndrome
- Test type:
- Single Gene
MEN1 Syndrome
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Test type:
- Gene Panel
MEN1 Syndrome
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Lab:
- Test type:
- Gene Panel
MEN1 Syndrome
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Test type:
- Gene Panel
MEN1 Syndrome
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Test type:
- Gene Panel
MLH1 germline methylation
- Category:
- Cancer
- Sub Category:
-
Lynch Syndrome
- Test type:
- Single Gene
MTHFR
- Category:
- Hematology
- Sub Category:
-
Thrombosis
- Test type:
- Targeted Variant
Malignant Hyperthermia
- Category:
- Neurogenetics, Pharmacogenetics
- Sub Category:
-
Malignant Hyperthermia
- Test type:
- Gene Panel
Maple Syrup Urine Disease
- Category:
- Metabolic
- Sub Category:
-
Amino Acid Disorders
- Test type:
- Gene Panel
Maple Syrup Urine Disease (BCKDHA)
- Category:
- Metabolic
- Sub Category:
-
Maple Syrup Urine Disease
- Test type:
- Single Gene
Marfan syndrome
- Category:
- Cardiogenetics, Connective Tissue
- Sub Category:
-
Marfan Syndrome
- Test type:
- Single Gene
Maternal Cell Contamination (MCC)
- Category:
- Multipurpose
- Sub Category:
-
Maternal cell contamination
- Test type:
- Other
Maternal Cell Contamination (MCC)
- Category:
- Multipurpose
- Sub Category:
-
Maternal cell contamination
- Test type:
- Other
Maternal Cell Contamination (MCC) Studies
- Category:
- Multipurpose
- Sub Category:
-
Maternal cell contamination
- Test type:
- Other
Maternal cell contamination
- Category:
- Fertility\Reproductive, Multipurpose
- Sub Category:
-
Maternal cell contamination
- Test type:
- Other
Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
Medium Chain Acyl-Coenzyme Deficiency
- Category:
- Metabolic
- Sub Category:
-
Medium Chain Acyl-Coenzyme Deficiency (MCAD Deficiency)
- Test type:
- Single Gene
Metachromatic Leukodystrophy
- Category:
- Metabolic
- Sub Category:
-
Metachromatic Leukodystrophy
- Test type:
- Single Gene
Metachromatic Leukodystrophy
- Category:
- Metabolic
- Sub Category:
-
Metachromatic Leukodystrophy
- Test type:
- Single Gene
Mevalonic aciduria
- Category:
- Metabolic
- Sub Category:
-
Mevalonic aciduria
- Test type:
- Single Gene
Microarray
- Category:
- Chromosomal Anomalies, Neurodevelopmental
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
Microarray (Constitutional) Postnatal, Blood - DIAGNOSTIC Testing
- Category:
- Chromosomal Anomalies, Neurodevelopmental
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
Microarray (Constitutional) Postnatal, Tissue - DIAGNOSTIC Testing
- Category:
- Chromosomal Anomalies, Neurodevelopmental, Limited Access
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
Microarray (Constitutional) Prenatal, Amniotic Fluid- DIAGNOSTIC Testing
- Category:
- Chromosomal Anomalies, Fertility\Reproductive, Limited Access
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome- Prenatal
- Test type:
- Cytogenetic
Microarray Analysis
- Category:
- Chromosomal Anomalies, Multiple Congenital Anomalies, Neurodevelopmental
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
Microarray Follow Up FISH - Cascade
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Microarray Follow-up
- Test type:
- Cytogenetic
Microarray Follow Up FISH - Proband
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Microarray Follow-up
- Test type:
- Cytogenetic
Microarray Follow-up FISH of CNV's
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Microarray Follow-up
- Test type:
- Cytogenetic
Microarray Follow-up Study
- Category:
- Chromosomal Anomalies
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
Microarray Follow-up qPCR of CNV's
- Category:
- Chromosomal Anomalies
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
Microarray for Prenatal and Perinatal testing
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome- Prenatal
- Lab:
- Test type:
- Cytogenetic
Microcephaly, Amish type
- Category:
- Multiple Congenital Anomalies
- Sub Category:
-
Microcephaly
- Test type:
- Single Gene
Mitochondrial Encephalopathy/Leigh Disease
- Category:
- Mitochondrial
- Sub Category:
-
Mitochondrial nuclear gene
- Test type:
- Gene Panel
Mitochondrial Gene Panels
- Category:
- Mitochondrial
- Sub Category:
-
Mitochondrial Genome
- Test type:
- Gene Panel
Mitochondrial Genome Panel
- Category:
- Mitochondrial
- Sub Category:
-
Mitochondrial Genome
- Test type:
- Gene Panel
Molar Pregnancy
- Category:
- Fertility\Reproductive
- Sub Category:
-
Molar Pregnancy
- Test type:
- Other
Mosaic Karyotype
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Chromosomal Anomalies
- Test type:
- Cytogenetic
Motor Neuronopathies Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
Mucolipidosis (Type IV)
- Category:
- Metabolic
- Sub Category:
-
Mucolipidosis
- Test type:
- Targeted Variant
Mucopolysaccharidosis type 1
- Category:
- Metabolic
- Sub Category:
-
Mucopolysaccharidosis type 1
- Test type:
- Single Gene
Multiple Carboxylase Deficiency
- Category:
- Metabolic
- Sub Category:
-
Organic Acid Disorders
- Test type:
- Gene Panel
Multiple Endocrine Neoplasia Type 1
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Test type:
- Gene Panel
Multiple Endocrine Neoplasia Type 1 & 4
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
- Test type:
- Gene Panel
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Test type:
- Single Gene
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Lab:
- Test type:
- Single Gene
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Test type:
- Single Gene
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Test type:
- Single Gene
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Test type:
- Single Gene
Multiple Endocrine Neoplasia Type 2
- Category:
- Cancer
- Sub Category:
-
Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
- Test type:
- Single Gene
Multiple carboxylase Deficiency: Biotinidase Deficiency
- Category:
- Metabolic
- Sub Category:
-
Organic Acid Disorders
- Test type:
- Single Gene
Multiple carboxylase deficiency: Other
- Category:
- Metabolic
- Sub Category:
-
Organic Acid Disorders
- Test type:
- Gene Panel
Muscle Diseases Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
Muscular Dystrophies Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
Myotonic dystrophy type 1
- Category:
- Neurogenetics
- Sub Category:
-
Myotonic dystrophy type 1
- Test type:
- Single Gene
Myotonic dystrophy type 2
- Category:
- Neurogenetics
- Sub Category:
-
Myotonic dystrophy type 2
- Test type:
- Single Gene
NGS HCT Panel with Custom Manifests (tests with multiple indications)
- Category:
- Cancer
- Sub Category:
-
Hereditary Comprehensive Cancer
- Lab:
- Test type:
- Gene Panel
Neurofibromatosis Type 1/Legius Syndrome
- Category:
- Cancer
- Sub Category:
-
Neurofibromatosis type 1
- Test type:
- Gene Panel
Neurofibromatosis type 1
- Category:
- Cancer
- Sub Category:
-
Neurofibromatosis type 1
- Test type:
- Single Gene
Neurofibromatosis type 1
- Category:
- Cancer
- Sub Category:
-
Neurofibromatosis type 1
- Test type:
- Single Gene
Neurofibromatosis type 1
- Category:
- Cancer
- Sub Category:
-
Neurofibromatosis type 1
- Lab:
- Test type:
- Single Gene
Neurofibromatosis type 1
- Category:
- Cancer
- Sub Category:
-
Neurofibromatosis type 1
- Test type:
- Single Gene
Neurofibromatosis type 1
- Category:
- Cancer
- Sub Category:
-
Neurofibromatosis type 1
- Test type:
- Single Gene
Neurofibromatosis, Type 1 (NF1)
- Category:
- Cancer
- Sub Category:
-
Neurofibromatosis type 1
- Test type:
- Single Gene
Neuromuscular Channelopathies Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
Neuromuscular Diseases Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
Neuropathies Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome
- Category:
- Cancer
- Sub Category:
-
Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Test type:
- Gene Panel
Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome
- Category:
- Cancer
- Sub Category:
-
Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Test type:
- Gene Panel
Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome
- Category:
- Cancer
- Sub Category:
-
Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Lab:
- Test type:
- Gene Panel
Nevoid Basal Cell Carcinoma/ Gorlin Syndrome
- Category:
- Cancer
- Sub Category:
-
Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
- Test type:
- Gene Panel
Niemann-Pick Disease
- Category:
- Metabolic
- Sub Category:
-
Niemann-Pick Disease
- Test type:
- Gene Panel
Niemann-Pick Disease (Type A & B)
- Category:
- Metabolic
- Sub Category:
-
Niemann-Pick Disease
- Test type:
- Targeted Variant
Nijmegen Breakage Syndrome
- Category:
- Cancer
- Sub Category:
-
Nijmegen Breakage Syndrome
- Test type:
- Single Gene
Nijmegen Breakage Syndrome
- Category:
- Cancer
- Sub Category:
-
Nijmegen Breakage Syndrome
- Lab:
- Test type:
- Single Gene
Nijmegen Breakage Syndrome
- Category:
- Cancer
- Sub Category:
-
Nijmegen Breakage Syndrome
- Test type:
- Single Gene
Nijmegen Breakage Syndrome
- Category:
- Cancer
- Sub Category:
-
Nijmegen Breakage Syndrome
- Test type:
- Single Gene
Nijmegen Breakage Syndrome
- Category:
- Cancer
- Sub Category:
-
Nijmegen Breakage Syndrome
- Test type:
- Single Gene
Nijmegen Breakage syndrome (NBN)
- Category:
- Cancer
- Sub Category:
-
Nijmegen Breakage syndrome
- Test type:
- Single Gene
Non-Syndromic Recessive Deafness
- Category:
- Audiology
- Sub Category:
-
Non-Syndromic Hearing Loss
- Test type:
- Gene Panel
Noonan Syndrome and RASopathies
- Category:
- Cardiogenetics, Immunity, Multiple Congenital Anomalies
- Sub Category:
-
Noonan Syndrome and RASopathies
- Test type:
- Gene Panel
Oculopharyngeal muscular dystrophy
- Category:
- Neurogenetics
- Sub Category:
-
Oculopharyngeal muscular dystrophy (OPMD)
- Test type:
- Single Gene
Oculopharyngeal muscular dystrophy (OPMD)
- Category:
- Neurogenetics
- Sub Category:
-
Oculopharyngeal muscular dystrophy (OPMD)
- Test type:
- Single Gene
Ornithine transcarbamylase deficiency
- Category:
- Metabolic
- Sub Category:
-
Ornithine transcarbamylase deficiency
- Test type:
- Single Gene
PKD Full Analysis
- Category:
- Renal
- Sub Category:
-
Polycystic Kidney Disease
- Lab:
- Test type:
- Gene Panel
PKD1 Deletion/Duplication only
- Category:
- Renal
- Sub Category:
-
Polycystic Kidney Disease
- Lab:
- Test type:
- Single Gene
PKD1 Sequencing only
- Category:
- Renal
- Sub Category:
-
Polycystic Kidney Disease
- Lab:
- Test type:
- Single Gene
PKD2 Deletion/Duplication only
- Category:
- Renal
- Sub Category:
-
Polycystic Kidney Disease
- Lab:
- Test type:
- Single Gene
PKD2 Sequencing only
- Category:
- Renal
- Sub Category:
-
Polycystic Kidney Disease
- Lab:
- Test type:
- Single Gene
PKHD1 Deletion/Duplication only
- Category:
- Renal
- Sub Category:
-
Polycystic Kidney Disease
- Lab:
- Test type:
- Single Gene
PKHD1 Sequencing only
- Category:
- Renal
- Sub Category:
-
Polycystic Kidney Disease
- Lab:
- Test type:
- Single Gene
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
-
PTEN Hamartoma Tumour Syndrome
- Test type:
- Single Gene
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
-
PTEN Hamartoma Tumour Syndrome
- Test type:
- Single Gene
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
-
PTEN Hamartoma Tumour Syndrome
- Test type:
- Single Gene
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
-
PTEN Hamartoma Tumour Syndrome
- Test type:
- Single Gene
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
-
PTEN Hamartoma Tumour Syndrome
- Lab:
- Test type:
- Single Gene
PTEN Hamartoma Tumour Syndrome
- Category:
- Cancer
- Sub Category:
-
PTEN Hamartoma Tumour Syndrome
- Test type:
- Single Gene
Pancreatic Adenocarcinoma
- Category:
- Cancer
- Sub Category:
-
Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
Pancreatic Adenocarcinoma
- Category:
- Cancer
- Sub Category:
-
Hereditary Pancreatic Cancer (Adenocarcinoma)
- Test type:
- Gene Panel
Pediatric Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Cardiomyopathy
- Test type:
- Gene Panel
Pediatric Cardiomyopathy and Arrythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Cardiomyopathy and Arrhythmia
- Test type:
- Gene Panel
Pediatric Cardiomyopathy and Arrythmia Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Cardiomyopathy and Arrhythmia
- Test type:
- Gene Panel
Pediatric Cardiomyopathy panel
- Category:
- Cardiogenetics
- Sub Category:
-
Cardiomyopathy
- Test type:
- Gene Panel
Pediatric Hypertrophic Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Hypertrophic Cardiomyopathy
- Test type:
- Gene Panel
Pediatric Hypertrophic Cardiomyopathy Panel
- Category:
- Cardiogenetics
- Sub Category:
-
Hypertrophic Cardiomyopathy
- Test type:
- Gene Panel
Perinatal Chromosome Microarray
- Category:
- Fertility\Reproductive, Limited Access
- Sub Category:
-
Microduplication/deletion Syndrome- Perinatal
- Test type:
- Cytogenetic
Perinatal rapid aneuploidy testing
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Aneuploidy Studies- Perinatal
- Test type:
- Other
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
-
Peutz-Jeghers Syndrome
- Test type:
- Single Gene
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
-
Peutz-Jeghers Syndrome
- Lab:
- Test type:
- Single Gene
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
-
Peutz-Jeghers Syndrome
- Test type:
- Single Gene
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
-
Peutz-Jeghers Syndrome
- Test type:
- Single Gene
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
-
Peutz-Jeghers Syndrome
- Test type:
- Single Gene
Peutz-Jeghers Syndrome
- Category:
- Cancer
- Sub Category:
-
Peutz-Jeghers Syndrome
- Test type:
- Single Gene
Pharmacogenetic testing - DPYD
- Category:
- Pharmacogenetics
- Sub Category:
-
Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
Phenylketonuria
- Category:
- Metabolic
- Sub Category:
-
Amino Acid Disorders
- Test type:
- Gene Panel
Phenylketonuria: Biopterin deficiencies
- Category:
- Metabolic
- Sub Category:
-
Amino Acid Disorders
- Test type:
- Gene Panel
Phenylketonuria: PAH deficiency
- Category:
- Metabolic
- Sub Category:
-
Amino Acid Disorders
- Test type:
- Single Gene
Polyposis
- Category:
- Cancer
- Sub Category:
-
Hereditary Polyposis Syndrome
- Test type:
- Gene Panel
Polyposis
- Category:
- Cancer
- Sub Category:
-
Hereditary Polyposis Syndrome
- Test type:
- Gene Panel
Polyposis
- Category:
- Cancer
- Sub Category:
-
Hereditary Polyposis Syndrome
- Test type:
- Gene Panel
Postnatal chromosome microarray
- Category:
- Chromosomal Anomalies, Neurodevelopmental
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
Postnatal rapid aneuploidy testing
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Aneuploidy Studies
- Test type:
- Other
Prader Willi syndrome
- Category:
- Neurodevelopmental
- Sub Category:
-
Prader Willi syndrome
- Test type:
- Single Gene
Prader-Willi Syndrome
- Category:
- Neurodevelopmental
- Sub Category:
-
Prader Willi syndrome
- Test type:
- Single Gene
Prader-Willi Syndrome - UPD
- Category:
- Chromosomal Anomalies
- Sub Category:
-
Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
- Test type:
- Other
Prenatal chromosome microarray
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Microduplication/deletion Syndrome- Prenatal
- Test type:
- Cytogenetic
Prenatal rapid aneuploidy testing
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Aneuploidy Studies- Prenatal
- Test type:
- Other
Primary immune deficiencies
- Category:
- Immunity
- Sub Category:
-
Primary immune deficiencies
- Test type:
- Gene Panel
Progressive Myoclonic Epilepsy Panel
- Category:
- Neurogenetics
- Sub Category:
-
Progressive Myoclonic Epilepsy
- Test type:
- Gene Panel
Progressive external ophthalmoplegia (PEO) and Optic atrophy
- Category:
- Mitochondrial
- Sub Category:
-
Mitochondrial nuclear gene
- Test type:
- Gene Panel
Propionic / Methylmalonic acidemias
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
Propionic / Methylmalonic acidemias: Isolated MMA
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
Propionic / Methylmalonic acidemias: Isolated Propionic Acidemia
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
Propionic / Methylmalonic acidemias: MMA and homocysteinemia
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Gene Panel
Prothrombin Gene 20210A Mutation
- Category:
- Hematology
- Sub Category:
-
Thrombophilia (Factor II Prothrombin)
- Test type:
- Targeted Variant
Prothrombin Gene Mutation
- Category:
- Hematology
- Sub Category:
-
Thrombophilia (Factor II Prothrombin)
- Test type:
- Targeted Variant
Prothrombin Mutation G20210A
- Category:
- Hematology
- Sub Category:
-
Thrombophilia (Factor II Prothrombin)
- Test type:
- Targeted Variant
Prothrombin Thrombophilia
- Category:
- Hematology
- Sub Category:
-
Thrombophilia (Factor II Prothrombin)
- Test type:
- Targeted Variant
Pyruvate dehydrogenase complex deficiency
- Category:
- Mitochondrial
- Sub Category:
-
Mitochondrial nuclear gene
- Test type:
- Gene Panel
RNA sequencing of whole transcriptome
- Category:
- Genome-wide
- Sub Category:
-
Whole Transcriptome Sequencing
- Test type:
- Genome-wide
Rapid Aneuploidy Detection
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Aneuploidy Studies
- Test type:
- Other
Rapid Aneuploidy Detection
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Aneuploidy Studies
- Test type:
- Other
Rapid Aneuploidy Detection
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Aneuploidy Studies
- Lab:
- Test type:
- Other
Rapid Aneuploidy Detection (RAD)
- Category:
- Chromosomal Anomalies, Fertility\Reproductive, Multiple Congenital Anomalies
- Sub Category:
-
Aneuploidy Studies
- Test type:
- Other
Rapid FISH: Ambiguous genitalia
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Disorders of Sex Development
- Test type:
- Cytogenetic
Rapid FISH: Bone Marrow Transplant
- Category:
- Chromosomal Anomalies
- Sub Category:
-
FISH: Bone Marrow Transplant
- Test type:
- Cytogenetic
Rapid FISH: Trisomy 13
- Category:
- Chromosomal Anomalies
- Sub Category:
-
Aneuploidy Studies
- Test type:
- Cytogenetic
Rapid FISH: Trisomy 18
- Category:
- Chromosomal Anomalies
- Sub Category:
-
Aneuploidy Studies
- Test type:
- Cytogenetic
Rapid FISH: Trisomy 21
- Category:
- Chromosomal Anomalies
- Sub Category:
-
Aneuploidy Studies
- Test type:
- Cytogenetic
Rapid aneuploidy detection (chrs 21, 18, 13, X, Y)
- Category:
- Chromosomal Anomalies, Fertility\Reproductive
- Sub Category:
-
Aneuploidy Studies
- Test type:
- Other
Rare Familial Mutations
- Category:
- Genome-wide
- Sub Category:
-
Known Familial Variant
- Test type:
- Single Gene
Rare Familial Mutations
- Category:
- Genome-wide
- Sub Category:
-
Known Familial Variant
- Test type:
- Single Gene
Rare Family Variant Sequencing
- Category:
- Genome-wide
- Sub Category:
-
Known Familial Variant
- Test type:
- Single Gene
Rare Hereditary Polyposis Genes
- Category:
- Cancer
- Sub Category:
-
Rare Polyposis Genes
- Test type:
- Gene Panel
Rare Polyposis
- Category:
- Cancer
- Sub Category:
-
Rare Polyposis Genes
- Test type:
- Gene Panel
Rare Polyposis
- Category:
- Cancer
- Sub Category:
-
Rare Polyposis Genes
- Test type:
- Gene Panel
Rare Polyposis Genes
- Category:
- Cancer
- Sub Category:
-
Rare Polyposis Genes
- Lab:
- Test type:
- Gene Panel
Rare Polyposis Genes
- Category:
- Cancer
- Sub Category:
-
Rare Polyposis Genes
- Test type:
- Gene Panel
Rare Polyposis Genes
- Category:
- Cancer
- Sub Category:
-
Rare Polyposis Genes
- Test type:
- Gene Panel
Renal Disease: Focal Segmental Glomerulonephritis Syndrome (FSGS) and membranous nephropathies
- Category:
- Renal
- Sub Category:
-
Focal Segmental Glomerulonephritis Syndrome (FSGS)
- Test type:
- Gene Panel
Renal Disease: atypical Hemolytic Uremic Syndrome / C3 glomerulonephritis (aHUS/C3G)
- Category:
- Renal
- Sub Category:
-
atypical Hemolytic Uremic Syndrome
- Test type:
- Gene Panel
Retinoblastoma
- Category:
- Cancer, Ophthalmology
- Sub Category:
-
Retinoblastoma
- Test type:
- Single Gene
Retinoblastoma
- Category:
- Cancer, Ophthalmology
- Sub Category:
-
Retinoblastoma
- Test type:
- Single Gene
Retinoblastoma
- Category:
- Cancer, Ophthalmology
- Sub Category:
-
Retinoblastoma
- Test type:
- Single Gene
Retinoblastoma
- Category:
- Cancer, Ophthalmology
- Sub Category:
-
Retinoblastoma
- Lab:
- Test type:
- Single Gene
Retinoblastoma
- Category:
- Cancer
- Sub Category:
-
Retinoblastoma
- Test type:
- Single Gene
Retinoblastoma
- Category:
- Cancer, Ophthalmology
- Sub Category:
-
Retinoblastoma
- Test type:
- Single Gene
Rhabdoid Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Lab:
- Test type:
- Gene Panel
Rhabdoid Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Gene Panel
Rhabdoid Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Gene Panel
Rhabdoid Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Gene Panel
Rhabdoid Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Gene Panel
Rhabdoid Tumor Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Gene Panel
Rhabdoid Tumour Predisposition Syndrome
- Category:
- Cancer
- Sub Category:
-
Rhabdoid Tumor Predisposition Syndrome (RTPS)
- Test type:
- Single Gene
Rhabdomyolysis and Metabolic Myopathies Panel
- Category:
- Neurogenetics
- Sub Category:
-
Neuromuscular Disease
- Test type:
- Gene Panel
Russell Silver Syndrome
- Category:
- Skeletal\Growth
- Sub Category:
-
Russell Silver Syndrome
- Test type:
- Targeted Variant
SCID ADA
- Category:
- Immunity, Metabolic
- Sub Category:
-
Primary immune deficiencies
- Test type:
- Single Gene
Schwannomatosis
- Category:
- Cancer
- Sub Category:
-
Schwannomatosis
- Test type:
- Gene Panel
Schwannomatosis
- Category:
- Cancer
- Sub Category:
-
Schwannomatosis
- Test type:
- Gene Panel
Schwannomatosis
- Category:
- Cancer
- Sub Category:
-
Schwannomatosis
- Test type:
- Gene Panel
Schwannomatosis
- Category:
- Cancer
- Sub Category:
-
Schwannomatosis
- Lab:
- Test type:
- Gene Panel
Schwannomatosis
- Category:
- Cancer
- Sub Category:
-
Schwannomatosis
- Test type:
- Gene Panel
Schwannomatosis
- Sub Category:
-
Schwannomatosis
- Test type:
- Gene Panel
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
-
Sessile Serrated Polyposis Cancer Syndrome
- Test type:
- Single Gene
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
-
Sessile Serrated Polyposis Cancer Syndrome
- Test type:
- Single Gene
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
-
Sessile Serrated Polyposis Cancer Syndrome
- Test type:
- Single Gene
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
-
Sessile Serrated Polyposis Cancer Syndrome
- Lab:
- Test type:
- Single Gene
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
-
Sessile Serrated Polyposis Cancer Syndrome
- Test type:
- Single Gene
Sessile Serrated Polyposis Cancer Syndrome
- Category:
- Cancer
- Sub Category:
-
Sessile Serrated Polyposis Cancer Syndrome
- Test type:
- Single Gene
Sexing PCR
- Category:
- Multipurpose
- Sub Category:
-
Sexing PCR
- Test type:
- Single Gene
Shwachman-Diamond Syndrome
- Category:
- Hematology
- Sub Category:
-
Shwachman-Diamond Syndrome
- Test type:
- Single Gene
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
Single Gene test: DPYD
- Category:
- Pharmacogenetics
- Sub Category:
-
Dihydropyrimidine dehydrogenase deficiency (DPYD)
- Test type:
- Targeted Variant
Single Gene test: Factor V Leiden
- Category:
- Hematology, Limited Access
- Sub Category:
-
Thrombophilia (Factor V Leiden)
- Test type:
- Targeted Variant
Single Gene test: HFE
- Category:
- Hematology, Limited Access
- Sub Category:
-
Hereditary Hemochromatosis
- Test type:
- Targeted Variant
Single Gene test: HLA-B*5701
- Category:
- Pharmacogenetics
- Sub Category:
-
Abacavir hypersensitivity
- Test type:
- Targeted Variant
Single Gene test: MTHFR
- Category:
- Hematology, Limited Access
- Sub Category:
-
Thrombosis
- Test type:
- Targeted Variant
Single Gene test: Prothrombin 20210
- Category:
- Hematology, Limited Access
- Sub Category:
-
Thrombophilia (Factor II Prothrombin)
- Test type:
- Targeted Variant
Single Gene test: TPMT
- Category:
- Pharmacogenetics, Limited Access
- Sub Category:
-
Thiopurine S-methyltransferase deficiency (TPMT)
- Test type:
- Targeted Variant
Single Gene tests (Hemoglobinopathies)
- Category:
- Hematology
- Sub Category:
-
Hemoglobin Diseases
- Test type:
- Gene Panel
Single Genetests (HFE)
- Category:
- Hematology
- Sub Category:
-
Hereditary Hemochromatosis
- Test type:
- Targeted Variant
Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Category:
- Cancer
- Sub Category:
-
Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT)
- Lab:
- Test type:
- Single Gene
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
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
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
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
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
Smith-Lemli-Opitz Syndrome
- Category:
- Metabolic
- Sub Category:
-
Smith-Lemli-Opitz Syndrome
- Test type:
- Single Gene
Soft Tissue Cancer Panel
- Category:
- Cancer
- Sub Category:
-
Hereditary Soft Tissue Sarcomas
- Test type:
- Gene Panel
Soft Tissue Sarcoma
- Category:
- Cancer
- Sub Category:
-
Hereditary Soft Tissue Sarcomas
- Test type:
- Gene Panel
Soft Tissue Sarcoma
- Category:
- Cancer
- Sub Category:
-
Hereditary Soft Tissue Sarcomas
- Test type:
- Gene Panel
Spinal Muscular Atrophy
- Category:
- Neurogenetics
- Sub Category:
-
Spinal Muscular Atrophy
- Test type:
- Gene Panel
Spinal and Bulbar Muscular Atrophy (SBMA)
- Category:
- Neurogenetics
- Sub Category:
-
Spinal and Bulbar Muscular Atrophy (SBMA)
- Test type:
- Single Gene
Spinal and bulbar muscular atrophy (AR gene)
- Category:
- Neurogenetics
- Sub Category:
-
Spinal and Bulbar Muscular Atrophy (SBMA)
- Test type:
- Single Gene
Spinal muscular atrophy
- Category:
- Neurogenetics
- Sub Category:
-
Spinal muscular atrophy
- Test type:
- Gene Panel
Spinocerebellar Ataxia panel (SCA)
- Category:
- Neurogenetics
- Sub Category:
-
Spinocerebellar Ataxia (SCA)
- Test type:
- Gene Panel
Spinocerebellar Ataxia type 1 (SCA1)
- Category:
- Neurogenetics
- Sub Category:
-
Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
Spinocerebellar Ataxia type 17 (SCA17)
- Category:
- Neurogenetics
- Sub Category:
-
Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
Spinocerebellar Ataxia type 2 (SCA2)
- Category:
- Neurogenetics
- Sub Category:
-
Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
Spinocerebellar Ataxia type 3 (SCA3)
- Category:
- Neurogenetics
- Sub Category:
-
Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
Spinocerebellar Ataxia type 6 (SCA6)
- Category:
- Neurogenetics
- Sub Category:
-
Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
Spinocerebellar Ataxia type 7 (SCA7)
- Category:
- Neurogenetics
- Sub Category:
-
Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
Spinocerebellar Ataxia type 8 (SCA8)
- Category:
- Neurogenetics
- Sub Category:
-
Spinocerebellar Ataxia (SCA)
- Test type:
- Single Gene
Succinic semialdehyde dehydrogenase deficiency
- Category:
- Metabolic
- Sub Category:
-
Organic Acid Disorders
- Test type:
- Single Gene
TPMT Gene Mutation
- Category:
- Pharmacogenetics
- Sub Category:
-
Thiopurine S-methyltransferase deficiency (TPMT)
- Test type:
- Single Gene
TPMT/NUDT15 Panel (Pharmacogenetic testing)
- Category:
- Hematology
- Sub Category:
-
TPMT/NUDT15 Panel (Pharmacogenetic testing)
- Test type:
- Gene Panel
Targeted Microarray
- Category:
- Chromosomal Anomalies, Neurodevelopmental
- Sub Category:
-
Microarray: Microduplication/deletion Syndrome
- Test type:
- Cytogenetic
Tay-Sachs Disease
- Category:
- Neurogenetics
- Sub Category:
-
Tay-Sachs Disease
- Test type:
- Single Gene
Thanatophoric Dysplasia (Type I & II)
- Category:
- Skeletal\Growth
- Sub Category:
-
Thanatophoric Dysplasia
- Test type:
- Gene Panel
Thoracic aneurisms and aortic dissections
- Category:
- Cardiogenetics
- Sub Category:
-
Thoracic aneurisms and aortic dissections
- Test type:
- Gene Panel
Thrombosis
- Category:
- Hematology
- Sub Category:
-
Thrombosis
- Test type:
- Targeted Variant
Transcobalamin II Deficiency (TCN2 gene)
- Category:
- Metabolic
- Sub Category:
-
Transcobalamin II Deficiency
- Test type:
- Single Gene
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
-
Tuberous Sclerosis
- Test type:
- Gene Panel
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
-
Tuberous Sclerosis
- Test type:
- Gene Panel
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
-
Tuberous Sclerosis
- Test type:
- Gene Panel
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
-
Tuberous Sclerosis
- Test type:
- Gene Panel
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
-
Tuberous Sclerosis
- Lab:
- Test type:
- Gene Panel
Tuberous Sclerosis
- Category:
- Cancer
- Sub Category:
-
Tuberous Sclerosis
- Test type:
- Gene Panel
Tyrosinemia
- Category:
- Metabolic
- Sub Category:
-
Amino Acid Disorders
- Test type:
- Gene Panel
Tyrosinemia: Elevated Succinylacetone
- Category:
- Metabolic
- Sub Category:
-
Tyrosinemia
- Test type:
- Gene Panel
Tyrosinemia: Elevated Tyrosine
- Category:
- Metabolic
- Sub Category:
-
Tyrosinemia
- Test type:
- Gene Panel
Uniparental Disomy (UPD) of chromosomes 14 and 15
- Category:
- Chromosomal Anomalies, Neurodevelopmental
- Sub Category:
-
Uniparental Disomy: Chromosome 14 & 15
- Test type:
- Other
Urea Cycle Diseases: All
- Category:
- Metabolic
- Sub Category:
-
Urea Cycle Disorders
- Test type:
- Gene Panel
Urea Cycle Diseases: High ASA
- Category:
- Metabolic
- Sub Category:
-
Urea Cycle Disorders
- Test type:
- Single Gene
Urea Cycle Diseases: High Citrulline
- Category:
- Metabolic
- Sub Category:
-
Urea Cycle Disorders
- Test type:
- Gene Panel
Urea Cycle Diseases: Low citrulline
- Category:
- Metabolic
- Sub Category:
-
Urea Cycle Disorders
- Test type:
- Gene Panel
Urea Cycle Diseases: Other
- Category:
- Metabolic
- Sub Category:
-
Urea Cycle Disorders
- Test type:
- Gene Panel
Urea Cycle Disorders
- Category:
- Metabolic
- Sub Category:
-
Urea Cycle Disorders
- Test type:
- Gene Panel
VLCAD deficiency
- Category:
- Metabolic
- Sub Category:
-
Fatty Acid Oxidation Diseases
- Test type:
- Single Gene
Very Long Chain acyl-CoA dehydrogenase Deficiency
- Category:
- Metabolic
- Sub Category:
-
Very Long Chain acyl-CoA dehydrogenase Deficiency
- Test type:
- Single Gene
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
-
Von Hippel-Lindau Syndrome
- Test type:
- Single Gene
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
-
Von Hippel-Lindau Syndrome
- Test type:
- Single Gene
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
-
Von Hippel-Lindau Syndrome
- Test type:
- Single Gene
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
-
Von Hippel-Lindau Syndrome
- Lab:
- Test type:
- Single Gene
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
-
Von Hippel-Lindau Syndrome
- Test type:
- Single Gene
Von Hippel-Lindau Syndrome
- Category:
- Cancer
- Sub Category:
-
Von Hippel-Lindau Syndrome
- Test type:
- Single Gene
WES (Singleton, Duo, Trio, Quad)
- Category:
- Genome-wide
- Sub Category:
-
Whole Exome Sequencing (WES)
- Test type:
- Genome-wide
WGS (Singleton, Duo, Trio, Quad)
- Category:
- Genome-wide
- Sub Category:
-
Whole Genome Sequencing (WGS)
- Test type:
- Genome-wide
Whole Exome Sequencing (WES)
- Category:
- Genome-wide
- Sub Category:
-
Whole Exome Sequencing (WES)
- Test type:
- Genome-wide
Whole Genome Sequencing (WGS)
- Category:
- Genome-wide
- Sub Category:
-
Whole Genome Sequencing (WGS)
- Test type:
- Genome-wide
X-Inactivation Analysis
- Category:
- Multipurpose
- Sub Category:
-
X-Inactivation Analysis
- Test type:
- Other
b-ketothiolase deficiency
- Category:
- Metabolic
- Sub Category:
-
Organic Acid Disorders
- Test type:
- Single Gene
karyotype (G-banding)
- Category:
- Limited Access
- Sub Category:
-
Chromosomal Anomalies
- Test type:
- Cytogenetic
mtDNA depletion and deletion
- Category:
- Mitochondrial
- Sub Category:
-
Mitochondrial nuclear gene
- Test type:
- Gene Panel
von Willebrand disease
- Category:
- Hematology
- Sub Category:
-
von Willebrand disease
- Test type:
- Single Gene
No results found
We were unable to find a match. Please reset the filters or search again.Last Updated: February 13, 2026
