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

Microarray for Prenatal and Perinatal testing

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

Mosaic Karyotype

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

Myotonic dystrophy type 1

Category: Neurogenetics
Subcategory: Myotonic dystrophy type 1
Test Type: Single Gene

Myotonic dystrophy type 2

Category: Neurogenetics
Subcategory: Myotonic dystrophy type 2
Test Type: Single Gene

Oculopharyngeal muscular dystrophy

Category: Neurogenetics
Subcategory: Oculopharyngeal muscular dystrophy (OPMD)
Test Type: Single Gene

Oculopharyngeal muscular dystrophy (OPMD)

Category: Neurogenetics
Subcategory: Oculopharyngeal muscular dystrophy (OPMD)
Test Type: Single Gene

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 chromosome microarray

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

Postnatal rapid aneuploidy testing

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