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

19 Results

Karyotype, GTG-banding

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies
Test Type: Cytogenetic

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

Prader-Willi Syndrome - UPD

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

Rapid FISH: Ambiguous genitalia

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

Rapid FISH: Bone Marrow Transplant

Category: Chromosomal Anomalies
Subcategory: FISH: Bone Marrow Transplant
Test Type: Cytogenetic

Rapid FISH: Trisomy 13

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

Rapid FISH: Trisomy 18

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

Rapid FISH: Trisomy 21

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