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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83 Results

Microarray (Constitutional) Postnatal, Tissue - DIAGNOSTIC Testing

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

Microarray (Constitutional) Prenatal, Amniotic Fluid- DIAGNOSTIC Testing

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

Mitochondrial Genome Panel

Category: Mitochondrial
Subcategory: Mitochondrial Genome
Test Type: Gene Panel

Multiple Endocrine Neoplasia Type 2

Category: Cancer
Subcategory: Multiple Endocrine Neoplasia Type 2 (MEN Type 2)
Test Type: Single Gene

Neurofibromatosis type 1

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

Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome

Category: Cancer
Subcategory: Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
Test Type: Gene Panel

Nijmegen Breakage Syndrome

Category: Cancer
Subcategory: Nijmegen Breakage Syndrome
Test Type: Single Gene

Pancreatic Adenocarcinoma

Category: Cancer
Subcategory: Hereditary Pancreatic Cancer (Adenocarcinoma)
Test Type: Gene Panel

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