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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130 Results

Prader-Willi Syndrome - UPD

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

Prenatal chromosome microarray

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Microduplication/deletion Syndrome- Prenatal
Test Type: Cytogenetic

Prenatal rapid aneuploidy testing

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies- Prenatal
Test Type: Other

Progressive Myoclonic Epilepsy Panel

Category: Neurogenetics
Subcategory: Progressive Myoclonic Epilepsy
Test Type: Gene Panel

Rapid Aneuploidy Detection

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies
Test Type: Other

Rapid Aneuploidy Detection

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies
Test Type: Other

Rapid Aneuploidy Detection

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies
Test Type: Other

Rapid aneuploidy detection (chrs 21, 18, 13, X, Y)

Category: Chromosomal Anomalies
Subcategory: Aneuploidy Studies
Test Type: Other

Rapid Aneuploidy Detection (RAD)

Category: Chromosomal Anomalies, Fertility/Reproductive, Multiple Congenital Anomalies
Subcategory: Aneuploidy Studies
Test Type: Other

Rapid FISH: Ambiguous genitalia

Category: Chromosomal Anomalies
Subcategory: FISH: Disorders of Sex Development
Test Type: Cytogenetic