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

122 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-associated Premature Ovarian Insufficiency (FXPOI)

Category: Fertility/Reproductive, Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Fragile X-associated tremor/ataxia syndrome

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

Fragile X (FMR1 gene)

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

Fragile X Syndrome (FMR1 gene)

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

Friedreich's Ataxia (FRDA)

Category: Neurogenetics
Subcategory: Friedreich's Ataxia (FRDA)
Test Type: Single Gene

Gastric Cancer Panel

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

Genetics - Microarray-constitutional, whole genome

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