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

11 Results

Adult Mitochondrial Disease Nuclear Gene Panel

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

FISH Analysis

Category: Chromosomal Anomalies
Subcategory: FISH: 22q11.21 Deletion Syndrome
Test Type: Cytogenetic

FISH Analysis - Cascade

Category: Chromosomal Anomalies
Subcategory: FISH- Cascade
Test Type: Cytogenetic

karyotype (G-banding)

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

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

Postnatal chromosome microarray

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

Postnatal rapid aneuploidy testing

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

Prenatal chromosome microarray

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