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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30 Results

Hemoglobin Variants

Category: Fertility/Reproductive, Hematology
Subcategory: Hemoglobin Diseases
Test Type: Gene Panel

Hereditary Cancer Panel

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer
Test Type: Gene Panel

Hereditary Hemolytic Anemia Panel

Category: Hematology
Subcategory: Hereditary Anemia
Test Type: Gene Panel

Hyperferritinemia Cataract Syndrome

Category: Ophthalmology
Subcategory: Hyperferritinemia Cataract Syndrome
Test Type: Single Gene

karyotype (G-banding)

Category: Chromosomal Anomalies
Subcategory: Chromosomal Anomalies
Test Type: Cytogenetic

Medium Chain Acyl-Coenzyme Deficiency

Category: Metabolic
Subcategory: Medium Chain Acyl-Coenzyme Deficiency (MCAD Deficiency)
Test Type: Single Gene

Metachromatic Leukodystrophy

Category: Metabolic
Subcategory: Metachromatic Leukodystrophy
Test Type: Single Gene

Mitochondrial Genome Panel

Category: Mitochondrial
Subcategory: Mitochondrial Genome
Test Type: Gene Panel

Perinatal Chromosome Microarray

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Microduplication/deletion Syndrome- Perinatal
Test Type: Cytogenetic

Perinatal rapid aneuploidy testing

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