Reproductive carrier screening
Genetic counselling and testing starting at
Carrier screening for genetic diseases
At Genolife, we offer you a genetic counselling and testing service that is personalized to your situation. You will meet with one of our certified genetic counsellors by telephone or videoconference to discuss your history and your genetic testing options. If you decide to have a genetic test done and you have a referral from your physician, we will coordinate the test and then meet with you again with the result to explain it in detail and discuss the implications for you and your family members. You and your doctor will receive a summary letter with a copy of your result. We are here to support you throughout this process.
Even without a family history of genetic disease, it is possible to carry a serious genetic disease and be at risk of having a child with the disease. Individuals who are carriers usually have no symptoms which is why a carrier screening test for genetic diseases can be important.
Carrier screening allows prospective parents to identify the potential risks of hundreds of genetic diseases in their children. This genetic test performed before or during pregnancy can be customized according to the concerns of the couple and can analyze up to 301 genes.
When a couple is identified to be at risk, our genetic counsellor discusses in detail the risks, the disease and if treatment is available, as well as the reproductive options.
Learn more about carrier screening for genetic diseases
Each of us carries at least one genetic disease. Even though we have no symptoms or family history of this disease, we can still have a modified copy of this gene. When both parents carry a variant (or a “mutation”) in the same gene, their children have a 25% risk of having the disease, regardless of gender. This is called autosomal recessive inheritance.
Other diseases are transmitted by a carrier mother (X-linked transmission) and usually affect their sons.
Genetic screening can cover several genetic diseases, including:
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
At Genolife, our genetic experts are here to help you understand your risks and options to be able to make the best decisions regarding your reproductive risks. Our genetic counsellor can discuss with you:
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.
Would you like to meet with a genetic counsellor? Contact us
Prenato offers prenatal screening from the 10th week of pregnancy in a private clinic.
- Prenatal screening for trisomies 21, 18 and 13
- Obstetric ultrasound
- Prenatal support
- Zika screening test