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.

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GAMT deficiency

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

Gastric Cancer Panel

Category: Cancer
Subcategory: Hereditary Gastric Cancer
Test Type: Gene Panel

Gastric Cancer Panel

Category: Cancer
Subcategory: Hereditary Gastric Cancer
Test Type: Gene Panel

General Comprehensive Hereditary Cancer Panel

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer
Test Type: Gene Panel

Genetics - Microarray-constitutional, whole genome

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome
Test Type: Cytogenetic

Genetics - microarray-prenatal, whole genome

Category: Chromosomal Anomalies
Subcategory: Microarray: Microduplication/deletion Syndrome- Prenatal
Test Type: Cytogenetic

Genomic SNP Microarray - Follow-Up - Blood, Tissue

Category: Chromosomal Anomalies
Subcategory: Microarray: Microduplication/deletion Syndrome

Genomic SNP Microarray - Proband - Blood, Tissue

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome

Glutaric Aciduria Type 1

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

Glutaric Aciduria type I (GCDH gene)

Category: Metabolic
Subcategory: Glutaric Aciduria type I
Test Type: Single Gene