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

17 Results

FISH: Steroid Sulfatase Deficiency

Category: Chromosomal Anomalies
Subcategory: FISH: Steroid Sulfatase Deficiency
Test Type: Cytogenetic

FISH: Williams syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Williams Syndrome
Test Type: Cytogenetic

FISH: Wolf-Hirschhorn syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Wolf-Hirschhorn Syndrome
Test Type: Cytogenetic

Microarray Analysis

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

Microarray Follow-up FISH of CNV's

Category: Chromosomal Anomalies
Subcategory: Microarray Follow-up

Microarray Follow-up qPCR of CNV's

Category: Chromosomal Anomalies
Subcategory: Microarray Follow-up

Rapid Aneuploidy Detection (RAD)

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