Ontario Genetic Test Directory

This directory lists genetic tests available in Ontario. For tumour testing, visit the Comprehensive Cancer Biomarker Testing Program

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

Please contact the providing laboratory directly to confirm availability of testing or whether any additional information is required (for example, requisitions or sample requirements). 

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181 Results

22q11.2 Deletion Syndrome

Category: Neurodevelopmental
Subcategory: 22q11.21 Deletion Syndrome
Test Type: Gene Panel

Achondroplasia / Hypochondroplasia

Category: Skeletal/growth
Subcategory: Achondroplasia and Hypochondroplasia
Test Type: Gene Panel

Actionable Gene Epilepsy Panel

Category: Neurogenetics
Subcategory: Actionable Epilepsy
Test Type: Gene Panel

Adenosine deaminase deficiency

Category: Immunity, Metabolic
Subcategory: Adenosine Deaminase Deficiency (ADA)
Test Type: Single Gene

Amyloidosis

Category: Renal
Subcategory: Amyloidosis
Test Type: Single Gene

Angelman Syndrome

Category: Neurodevelopmental
Subcategory: Angelman Syndrome
Test Type: Single Gene

Angelman Syndrome - UPD

Category: Chromosomal Anomalies
Subcategory: Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
Test Type: Cytogenetic

Arginase Deficiency

Category: Metabolic
Subcategory: Arginase Deficiency
Test Type: Single Gene

Ashkenazi Jewish Panel

Category: Cancer
Subcategory: Ashkenazi Jewish Panel
Test Type: Targeted Variant

Ashkenazi Jewish panel

Category: Fertility/Reproductive
Subcategory: Ashkenazi Jewish Screening panel
Test Type: Targeted Variant