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

14 Results

22q11.2 Deletion Syndrome

Category: Neurodevelopmental
Subcategory: 22q11.21 Deletion Syndrome
Test Type: Gene Panel

Angelman Syndrome

Category: Neurodevelopmental
Subcategory: Angelman Syndrome
Test Type: Single Gene

Bloom Syndrome

Category: Hematology
Subcategory: Bloom Syndrome
Test Type: Cytogenetic, Targeted Variant

Coagulation Panel (Factor II, Factor V, and MTHFR)

Category: Hematology
Subcategory: Coagulation Panel
Test Type: Gene Panel, Targeted Variant

Fanconi Anemia (DEB, MMC)

Category: Hematology
Subcategory: Fanconi Anemia
Test Type: Cytogenetic

Fanconi Anemia Group C

Category: Hematology
Subcategory: Fanconi Anemia
Test Type: Targeted Variant

Fragile X E (FMR2 gene)

Category: Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Fragile X (FMR1 gene)

Category: Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Genomic SNP Microarray - Proband - Blood, Tissue

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

Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG

Category: Hematology
Subcategory: Hereditary Hemorrhagic Telangiectasia (HHT)
Test Type: Gene Panel