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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99 Results

Rapid FISH: Trisomy 18

Category: Chromosomal Anomalies
Subcategory: Aneuploidy Studies
Test Type: Cytogenetic

Rapid FISH: Trisomy 21

Category: Chromosomal Anomalies
Subcategory: Aneuploidy Studies
Test Type: Cytogenetic

Single Gene test: DPYD

Category: Pharmacogenetics
Subcategory: Dihydropyrimidine dehydrogenase deficiency (DPYD)
Test Type: Targeted Variant

Single Gene test: HLA-B*5701

Category: Pharmacogenetics
Subcategory: Abacavir hypersensitivity
Test Type: Targeted Variant

Single Gene test: TPMT

Category: Pharmacogenetics
Subcategory: Thiopurine S-methyltransferase deficiency (TPMT)
Test Type: Targeted Variant

Targeted Microarray

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

TPMT Gene Mutation

Category: Pharmacogenetics
Subcategory: Thiopurine S-methyltransferase deficiency (TPMT)
Test Type: Single Gene

Uniparental Disomy (UPD)

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Uniparental Disomy
Test Type: Cytogenetic

Uniparental Disomy (UPD) of chromosomes 14 and 15

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Uniparental Disomy: Chromosome 14 & 15
Test Type: Other