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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      Lab/Location

      London Health Sciences Centre
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      Test type

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      Showing 10 of 644 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:
      North York General Hospital

      DPYD Genotyping

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

      Microarray

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

      MTHFR

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

      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: May 21, 2026