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

94 Results

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

FISH: 22q11.21 Deletion Syndrome (DiGeorge)

Category: Chromosomal Anomalies
Subcategory: 22q11.21 Deletion Syndrome
Test Type: Cytogenetic

FISH Analysis

Category: Chromosomal Anomalies
Subcategory: FISH: 22q11.21 Deletion Syndrome
Test Type: Cytogenetic

FISH Analysis - Cascade

Category: Chromosomal Anomalies
Subcategory: FISH- Cascade
Test Type: Cytogenetic

FISH: Angelman Syndrome (AS)

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

FISH: Cri-du-Chat Syndrome

Category: Chromosomal Anomalies
Subcategory: Cri-du-Chat Syndrome
Test Type: Cytogenetic

FISH: DiGeorge Syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: 22q11.21 Deletion Syndrome
Test Type: Cytogenetic

FISH: Disorders of sex development

Category: Chromosomal Anomalies
Subcategory: FISH: Disorders of Sex Development
Test Type: Cytogenetic