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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Skeletal growth
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Lab/Location

London Health Sciences Centre
The Hospital for Sick Children
National Inherited Bleeding Disorder Genotyping Laboratory, KGH
Dynacare
St. Michael’s Hospital
Sunnybrook Health Sciences Centre
North York General Hospital
Kingston General Hospital
Mount Sinai Hospital
Children's Hospital of Eastern Ontario
Trillium Health Partners - Credit Valley Hospital
Newborn Screening Ontario
Hamilton Health Sciences Centre
University Health Network

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Showing 10 of 633 results

DPYD

Category:
Pharmacogenetics
Test Name (CMS Title):
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Lab:
Test type:
Targeted Variant
Lab/Location:
Dynacare

DPYD Genotyping

Category:
Pharmacogenetics
Test Name (CMS Title):
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Test type:
Targeted Variant
Lab/Location:
Kingston General Hospital

DPYD Genotyping

Category:
Pharmacogenetics
Test Name (CMS Title):
Dihydropyrimidine dehydrogenase deficiency (DPYD)
Test type:
Targeted Variant
Lab/Location:
North York General Hospital

Karyotype

Category:
Chromosomal Anomalies, Fertility Reproductive
Test Name (CMS Title):
Chromosomal Anomalies
Test type:
Cytogenetic
Lab/Location:
London Health Sciences Centre

MEN1 Syndrome

Category:
Cancer
Test Name (CMS Title):
Multiple Endocrine Neoplasia Type 1 (MEN Type 1)
Test type:
Lab/Location:
Mount Sinai Hospital

MTHFR

Category:
Hematology
Test Name (CMS Title):
Thrombosis
Test type:
Targeted Variant
Lab/Location:
University Health Network

Microarray

Category:
Chromosomal Anomalies, Neurodevelopmental
Test Name (CMS Title):
Microarray: Microduplication/deletion Syndrome
Test type:
Cytogenetic
Lab/Location:
London Health Sciences Centre

SCID ADA

Category:
Immunity, Metabolic
Test Name (CMS Title):
Primary immune deficiencies
Test type:
Single Gene
Lab/Location:
Newborn Screening Ontario

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Last Updated: November 14, 2025