Ontario Genetic Test Directory

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

This directory does not include:

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

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

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

Displaying Results

15 Results

Alpha-1-Antitrypsin Deficiency

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

Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Category: Endocrinology
Subcategory: Congenital Adrenal Hyperplasia
Test Type: Single Gene

Congenital Adrenal Hyperplasia: Other

Category: Endocrinology
Subcategory: Congenital Adrenal Hyperplasia
Test Type: Gene Panel

Cystic Fibrosis

Category: Respiratory
Subcategory: Cystic Fibrosis
Test Type: Single Gene

Cystic Fibrosis

Category: Fertility/Reproductive, Respiratory
Subcategory: Cystic Fibrosis
Test Type: Targeted Variant

Familial Hypercholesterolemia

Category: Endocrinology
Subcategory: Familial Hypercholesterolemia
Test Type: Gene Panel

Familial Hypercholesterolemia

Category: Endocrinology
Subcategory: Familial Hypercholesterolemia
Test Type: Gene Panel

Familial Hypercholesterolemia

Category: Endocrinology
Subcategory: Familial Hypercholesterolemia
Test Type: Gene Panel

Hearing Loss, Non-Syndromic (GJB2 (including GJB6 del) and SLC26A4)

Category: Audiology
Subcategory: Non-Syndromic Hearing Loss
Test Type: Gene Panel

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

Category: Audiology
Subcategory: Common and Non-Syndromic Hearing Loss
Test Type: Gene Panel