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

128 Results

Mitochondrial Genome Panel

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

Mosaic Karyotype

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

Multiple Endocrine Neoplasia Type 1 & 4

Category: Cancer
Subcategory: Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
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

Niemann-Pick Disease

Category: Metabolic
Subcategory: Niemann-Pick Disease
Test Type: Gene Panel

Nijmegen Breakage Syndrome

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

Non-Syndromic Recessive Deafness

Category: Audiology
Subcategory: Non-Syndromic Hearing Loss
Test Type: Gene Panel

Ornithine transcarbamylase deficiency

Category: Metabolic
Subcategory: Ornithine transcarbamylase deficiency
Test Type: Single Gene

Perinatal Chromosome Microarray

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