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

133 Results

Isovaleric acidemia

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Gene Panel

Karyotype, GTG-banding

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies
Test Type: Cytogenetic

LCHAD/MTP deficiency

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Gene Panel

Li-Fraumeni

Category: Cancer
Subcategory: Li-Fraumeni Syndrome
Test Type: Single Gene

MADD/Glutaric aciduria type 2

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Gene Panel

Maple Syrup Urine Disease

Category: Metabolic
Subcategory: Amino Acid Disorders
Test Type: Gene Panel

Maternal Cell Contamination (MCC) Studies

Category: Multipurpose
Subcategory: Maternal cell contamination

MCAD deficiency

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Single Gene

Microarray Follow Up FISH - Cascade

Category: Chromosomal Anomalies
Subcategory: FISH: Microarray Follow-up

Microarray Follow Up FISH - Proband

Category: Chromosomal Anomalies
Subcategory: FISH: Microarray Follow-up