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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74 Results

Alpha Thalassemia

Category: Hematology
Subcategory: Alpha Thalassemia
Test Type: Gene Panel

Aneuploidy Testing - Fetal Demise

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

Ashkenazi Jewish panel

Category: Fertility/Reproductive
Subcategory: Ashkenazi Jewish Screening panel
Test Type: Targeted Variant

Beta Thalassemia

Category: Hematology
Subcategory: Beta Thalassemia
Test Type: Gene Panel

Bloom Syndrome

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

Chromosome analysis

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies

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

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

Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Category: Endocrinology
Subcategory: Congenital Adrenal Hyperplasia
Test Type: Single Gene

Congenital Adrenal Hyperplasia: Other

Category: Endocrinology
Subcategory: Congenital Adrenal Hyperplasia
Test Type: Gene Panel

Constitutional Chromosome Analysis

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies
Test Type: Cytogenetic