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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101 Results

FISH: Steroid Sulfatase Deficiency

Category: Chromosomal Anomalies
Subcategory: FISH: Steroid Sulfatase Deficiency
Test Type: Cytogenetic

FISH: Williams syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Williams Syndrome
Test Type: Cytogenetic

FISH: Wolf-Hirschhorn syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Wolf-Hirschhorn Syndrome
Test Type: Cytogenetic

Fragile X (FMR1 gene)

Category: Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Full mitochondrial nuclear gene panel

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Galactosemia: Other

Category: Metabolic
Subcategory: Galactosemia
Test Type: Gene Panel

GALT deficiency

Category: Metabolic
Subcategory: Galactosemia
Test Type: Single Gene

GAMT deficiency

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

Glutaric Aciduria Type 1

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

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

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