Ontario Genetic Test Directory

This directory lists genetic tests available in Ontario. For tumour testing, visit the Comprehensive Cancer Biomarker Testing Program

The information in this directory is intended for informational purposes only and may not reflect all recent updates. 

Please contact the providing laboratory directly to confirm availability of testing or whether any additional information is required (for example, requisitions or sample requirements). 

Displaying Results

133 Results

Propionic / Methylmalonic acidemias: MMA and homocysteinemia

Category: Metabolic
Subcategory: Fatty Acid Oxidation Diseases
Test Type: Gene Panel

Pyruvate dehydrogenase complex deficiency

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

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

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

Rhabdoid Tumour Predisposition Syndrome

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