pictogramme désignant un service test de porteur génétique

Reproductive carrier screening

Genetic counselling and testing

NEW: Expanded carrier screening test package

Carrier screening allows future parents, including those using an egg or sperm donor, to identify the potential risks of hundreds of genetic diseases in their future child. This genetic test can screen for more than 500 genes and can be done before or during pregnancy. Even without a family history of genetic disease, it is possible to be a carrier of a serious genetic disease and be at risk of having a child with this disease. Individuals who are carriers usually have no symptoms and this is why carrier testing for genetic diseases can be important.

Genolife is now offering a new service, making carrier screening for genetic diseases more accessible. The process will take place in 3 stages:

1) Pre-test webinar and consent

After payment confirmation, you will have access to our secure online portal to watch a pre-recorded webinar by one of our genetic counsellors. This webinar will provide you with all the information you need to make an informed decision regarding testing, including the limitations of the results*. A consent form must then be signed in the portal to access the test.

2) Testing on a saliva sample

You will receive a saliva collection kit at your home which you will then need to return to the laboratory via a pre-paid envelope. It may take up to 21 calendar days for your sample to be analyzed.

3) Post-test genetic counselling

Once the results are available, you will meet with one of our certified genetic counsellors by telephone or video conference to review the results in detail and discuss the implications for you and your family members. If a reproductive risk is identified, our genetic counsellor will discuss the risks, the disease and the treatment options (if available) in detail as well as reproductive options. You will receive a summary letter with a copy of your result.

*If you have a personal and/or family history of genetic disease, pre-test genetic counselling is recommended, and a negative test result will have no guarantee of being able to reduce or eliminate your reproductive risk associated with this history .

Visit our client portal to schedule a genetic counselling appointment.

Learn more about carrier screening for genetic diseases

Genetic diseases screened

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.

The expanded carrier screening test covers hundreds of genetic diseases including those that are more common in certain populations due to a founder effect (e.g. Ashkenazi Jewish origin, origin from Charlevoix/Saguenay Lac-Saint-Jean). The diseases tested are generally severe with early onset, with or without available treatments, but some could present a certain variability and expression in adulthood. Here is an example of some conditions that are part of the panel:

Cystic fibrosis

Tay-Sachs disease

Tyrosinemia

Spinal muscular atrophy

Fragile X syndrome

Duchenne muscular dystrophy

More than 500 genetic diseases – see the complete list here.

Examples of people who may benefit from the carrier screening package:

People without specific risks who would like to know their risks of having a child with a genetic disease, or 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), or couples with consanguinity.

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

Genetic counselling

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:

The implications of your genetic test results for you and your family members

Your risk to have a child with a genetic disease

The reproductive options available to you

The follow-up with your physician (if applicable)

Genetic testing for carrier screening

We work with clinical laboratories that are accredited to perform medical genetic testing.

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.

Request your expanded carrier screening package here:

Contact information of the person who will do the test

First name*

Last name*

Date of birth*

Telephone number*

Email*

Your partner's information - if requesting testing for couple

Partner’s first name (optional)

Partner’s last name (optional)

Partner’s date of birth (optional)

Partner’s telephone number (optional)

Partner’s email (optional)

Address

Mailing address*

City*

Province*

Postal code*

Clinic

Name of the clinic or healthcare professional following you (optional)

Test Type

Expanded carrier screening test for planned use of an egg or sperm donor - individual (749$)
Expanded carrier screening test for general preconception - individual (749$)
Expanded carrier screening test for general preconception - couple (1219$)

Reproductive carrier screening

NEW: Expanded carrier screening test package

Learn more about carrier screening for genetic diseases

Request your expanded carrier screening package here:

Contact information of the person who will do the test

Your partner's information - if requesting testing for couple

Address

Clinic

Access our genetic

counselling service

Starting at

349 $