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

19 Results

Angelman Syndrome - UPD

Category: Chromosomal Anomalies
Subcategory: Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
Test Type: Cytogenetic

FISH: Angelman Syndrome (AS)

Category: Chromosomal Anomalies
Subcategory: FISH: Angelman/Prader Willi Syndrome
Test Type: Cytogenetic

FISH: DiGeorge Syndrome

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

FISH: Disorders of sex development

Category: Chromosomal Anomalies
Subcategory: FISH: Disorders of Sex Development
Test Type: Cytogenetic

FISH: Prader-Willi Syndrome (PWS)

Category: Chromosomal Anomalies
Subcategory: FISH: Angelman/Prader Willi Syndrome
Test Type: Cytogenetic

FISH: Smith-Magenis Syndrome

Category: Chromosomal Anomalies
Subcategory: FISH: Smith-Magenis Syndrome
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

Genomic SNP Microarray - Follow-Up - Blood, Tissue

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

Genomic SNP Microarray - Proband - Blood, Tissue

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