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

9 Results

Constitutional Chromosome Analysis, Routine GTG banding

Category: Chromosomal Anomalies, Fertility/Reproductive
Subcategory: Chromosomal Anomalies

Constitutional FISH test: 22q11.21 Deletion Syndrome

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

Fragile X-associated Premature Ovarian Insufficiency (FXPOI)

Category: Fertility/Reproductive, Neurodevelopmental
Subcategory: Fragile X Syndrome
Test Type: Single Gene

Fragile X-associated tremor/ataxia syndrome

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

Fragile X Syndrome (FMR1 gene)

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

Genetics - Microarray-constitutional, whole genome

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

Genetics - microarray-prenatal, whole genome

Category: Chromosomal Anomalies
Subcategory: Microarray: Microduplication/deletion Syndrome- Prenatal
Test Type: Cytogenetic

Rapid aneuploidy detection (chrs 21, 18, 13, X, Y)

Category: Chromosomal Anomalies
Subcategory: Aneuploidy Studies
Test Type: Other

Uniparental Disomy (UPD) of chromosomes 14 and 15

Category: Chromosomal Anomalies, Neurodevelopmental
Subcategory: Uniparental Disomy: Chromosome 14 & 15
Test Type: Other