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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68 Results

Microarray (Constitutional) Prenatal, Amniotic Fluid- DIAGNOSTIC Testing

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

Microarray for Prenatal and Perinatal testing

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Microarray: Microduplication/deletion Syndrome- Prenatal

Molar Pregnancy

Category: Fertility/Reproductive
Subcategory: Molar Pregnancy
Test Type: Other

Mosaic Karyotype

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies

MTHFR

Category: Hematology
Subcategory: Thrombosis
Test Type: Targeted Variant

Perinatal Chromosome Microarray

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

Perinatal rapid aneuploidy testing

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

Postnatal rapid aneuploidy testing

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

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