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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32 Results

Fragile X Syndrome (FMR1 gene)

Category: Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Full mitochondrial nuclear gene panel

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

Genetics - Microarray-constitutional, whole genome

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome
Test Type: Cytogenetic

Genomic SNP Microarray - Proband - Blood, Tissue

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome

Hydroxyglutaric Aciduria

Category: Mitochondrial
Subcategory: Mitochondrial nuclear gene
Test Type: Gene Panel

MECP2 - Rett Syndrome

Category: Neurodevelopmental
Subcategory: Rett Syndrome
Test Type: Single Gene

Microarray

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome

Microarray Analysis

Category: Chromosomal Anomalies, Multiple Congenital Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome
Test Type: Cytogenetic

Microarray (Constitutional) Postnatal, Blood - DIAGNOSTIC Testing

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome
Test Type: Cytogenetic

Microarray (Constitutional) Postnatal, Tissue - DIAGNOSTIC Testing

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Microarray: Microduplication/deletion Syndrome
Test Type: Cytogenetic