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.

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80 Results

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

Spinal and bulbar muscular atrophy (AR gene)

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

Spinal Muscular Atrophy

Category: Neurogenetics
Subcategory: Spinal Muscular Atrophy
Test Type: Gene Panel

Tay-Sachs Disease

Category: Neurogenetics
Subcategory: Tay-Sachs Disease
Test Type: Single Gene

Thanatophoric Dysplasia (Type I & II)

Category: Skeletal/growth
Subcategory: Thanatophoric Dysplasia
Test Type: Gene Panel

TPMT/NUDT15 Panel (Pharmacogenetic testing)

Category: Hematology
Subcategory: TPMT/NUDT15 Panel (Pharmacogenetic testing)
Test Type: Gene Panel, Targeted Variant

WES (Singleton, Duo, Trio, Quad)

Category: Genome-wide
Subcategory: Whole Exome Sequencing (WES)
Test Type: Genome-wide

WGS (Singleton, Duo, Trio, Quad)

Category: Genome-wide
Subcategory: Whole Genome Sequencing (WGS)
Test Type: Genome-wide

X-Inactivation Analysis

Category: Multipurpose
Subcategory: X-Inactivation Analysis