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). 

Displaying Results

135 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

Alpha-1-Antitrypsin Deficiency

Category: Respiratory
Subcategory: Alpha-1-Antitrypsin Deficiency
Test Type: Single Gene

Aneuploidy Testing - Fetal Demise

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies- Perinatal
Test Type: Other

Aneuploidy Testing - Post Natal

Category: Chromosomal Anomalies
Subcategory: Aneuploidy Studies
Test Type: Other

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

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

Ataxia Telangiectasia /Nijmegen Breakage Syndrome

Category: Neurogenetics
Subcategory: Ataxia Telangiectasia (Nijmegen Breakage Syndrome)
Test Type: Cytogenetic