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). 

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29 Results

Postnatal rapid aneuploidy testing

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies
Test Type: Other

Prenatal chromosome microarray

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Microduplication/deletion Syndrome- Prenatal
Test Type: Cytogenetic

Prenatal rapid aneuploidy testing

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Aneuploidy Studies- Prenatal
Test Type: Other

Prothrombin Gene Mutation

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin)
Test Type: Targeted Variant

Single Gene tests (Hemoglobinopathies)

Category: Hematology
Subcategory: Hemoglobin Diseases
Test Type: Gene Panel

Single Genetests (HFE)

Category: Hematology
Subcategory: Hereditary Hemochromatosis
Test Type: Targeted Variant

Smith-Lemli-Opitz Syndrome

Category: Metabolic
Subcategory: Smith-Lemli-Opitz Syndrome
Test Type: Single Gene

TPMT Gene Mutation

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

Very Long Chain acyl-CoA dehydrogenase Deficiency

Category: Metabolic
Subcategory: Very Long Chain acyl-CoA dehydrogenase Deficiency
Test Type: Single Gene