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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87 Results

Li-Fraumeni

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

Maternal Cell Contamination (MCC) Studies

Category: Multipurpose
Subcategory: Maternal cell contamination

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

Mucolipidosis (Type IV)

Category: Metabolic
Subcategory: Mucolipidosis
Test Type: Targeted Variant

Neurofibromatosis Type 1/Legius Syndrome

Category: Cancer
Subcategory: Neurofibromatosis type 1
Test Type: Gene Panel

Niemann-Pick Disease (Type A & B)

Category: Metabolic
Subcategory: Niemann-Pick Disease
Test Type: Targeted Variant

Noonan Syndrome and RASopathies

Category: Cardiogenetics, Immunity, Multiple Congenital Anomalies
Subcategory: Noonan Syndrome and RASopathies
Test Type: Gene Panel

Prader-Willi Syndrome

Category: Neurodevelopmental
Subcategory: Prader Willi syndrome
Test Type: Single Gene

Prader-Willi Syndrome - UPD

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