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

50 Results

Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing

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

Hereditary Thrombophilia

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

MTHFR

Category: Hematology
Subcategory: Thrombosis
Test Type: Targeted Variant

Prothrombin Gene 20210A Mutation

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

Prothrombin Gene Mutation

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

Prothrombin Mutation G20210A

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

Prothrombin Thrombophilia

Category: Hematology
Subcategory: Thrombophilia (Factor II Prothrombin)

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