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

129 Results

Rapid FISH: Ambiguous genitalia

Category: Chromosomal Anomalies
Subcategory: FISH: Disorders of Sex Development
Test Type: Cytogenetic

Rapid FISH: Bone Marrow Transplant

Category: Chromosomal Anomalies
Subcategory: FISH: Bone Marrow Transplant
Test Type: Cytogenetic

Rapid FISH: Trisomy 13

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

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

Rare Polyposis

Category: Cancer
Subcategory: Rare Polyposis Genes
Test Type: Gene Panel

Renal Disease: atypical Hemolytic Uremic Syndrome / C3 glomerulonephritis (aHUS/C3G)

Category: Renal
Subcategory: atypical Hemolytic Uremic Syndrome
Test Type: Gene Panel

Renal Disease: Focal Segmental Glomerulonephritis Syndrome (FSGS) and membranous nephropathies

Category: Renal
Subcategory: Focal Segmental Glomerulonephritis Syndrome (FSGS)
Test Type: Gene Panel

Retinoblastoma

Category: Cancer
Subcategory: Retinoblastoma
Test Type: Single Gene

Rhabdoid Predisposition Syndrome

Category: Cancer
Subcategory: Rhabdoid Tumor Predisposition Syndrome (RTPS)
Test Type: Gene Panel