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

109 Results

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

RNA sequencing of whole transcriptome

Category: Genome-wide
Subcategory: Whole Transcriptome Sequencing

Russell Silver Syndrome

Category: Skeletal/growth
Subcategory: Russell Silver Syndrome
Test Type: Cytogenetic

Shwachman-Diamond Syndrome

Category: Hematology
Subcategory: Shwachman-Diamond Syndrome
Test Type: Single Gene

Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis

Category: Skeletal/growth
Subcategory: Simpson-Golabi-Behmel Syndrome
Test Type: Gene Panel

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

Spinal and bulbar muscular atrophy (AR gene)

Category: Neurogenetics
Subcategory: Spinal and Bulbar Muscular Atrophy (SBMA)
Test Type: Single Gene