Cystic fibrosis

Tay-Sachs disease

Tyrosinemia

Spinal muscular atrophy

Fragile X syndrome

Duchenne muscular dystrophy

Up to 300 genetic diseases

People with a family history of genetic disease

People who come from a region with a known higher carrier frequency (for example, the Saguenay-Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions, Eastern Europe or those of Ashkenazi Jewish origin, and the Mediterranean, Africa and Southeast Asia regions)

People undergoing fertility treatment who will use an egg or sperm donor who is a carrier of a genetic disease

People without specific risks who would like to know their risks of having a child with a genetic disease

Your personal and family history of genetic diseases

Your risk to have a child with a genetic disease

The genetic testing options available to you

The implications of genetic testing for you and your family members

The follow-up with your physician

We work with clinical laboratories that are accredited to perform medical genetic testing at the request of a physician. 

Carrier testing is available that targets a single gene or that evaluates up to 301 genes depending on your history and your interest in knowing this information. For women, the test can cover 288 genes associated with recessive and X-linked diseases, with 13 other genes available depending on the medical history. For men, the test can cover 267 genes associated with recessive diseases, with 12 other genes available depending on the medical history. 

A genetic test evaluates the sequence of the gene to find variants, like reading a book to find spelling mistakes. We all have genetic variants, not all of them are problematic. Certain variants, called pathogenic variants or mutations, have a large impact on the function of the gene and are associated with that disease.