Carrier screening for genetic diseases

Offered in collaboration with Genolife, the carrier screening test is available to individuals who are interested in learning about their possible risks to have a child with an inherited disease, for example cystic fibrosis. This test can be personalized depending on an individual’s needs and primary concerns and includes genetic counselling.

 

The carrier screening test can be done before or during a pregnancy and can screen up to 301 genes. The genetic diseases that can be included have different impacts on those who are affected. Some of them are associated with disabilities, with various health complications or have limited or no treatment options. Through early detection, the lives of these individuals can be greatly improved through timely and appropriate interventions. When a couple is identified as being at risk, our genetic counsellor will discuss in detail the specific condition, the risks and the reproductive options.

 

This test is also available for people with a family history of genetic disease or for those with an increased risk related to their ethnicity. In addition, the test can analyze genes associated with both autosomal recessive and X-linked inheritance.

 

Certain individuals are at higher risk for a genetic disease, including:

  • Individuals from the Saguenay-Lac-St-Jean, Charlevoix and Haute-Côte-Nord regions of Quebec
  • Individuals of Ashkenazi Jewish origin
  • Individuals from the Mediterranean region

 

Autosomal recessive inheritance

Each of us is a carrier of at least one genetic disease. A carrier has one copy of a gene that is modified (has a pathogenic variant or a mutation) and the other copy of the same gene is functional. A carrier usually has no symptoms or family history of this disease. When both parents are carriers of the same disease, their children each have a 25% risk (1/4) of having the disease.

 

Examples of autosomal recessive diseases: cystic fibrosis, Tay-Sachs disease, tyrosinemia and spinal muscular atrophy

 

 

X-linked inheritance

These diseases are transmitted by a carrier mother and it is usually their sons who are affected.

Examples of X-linked diseases: Fragile X syndrome, Duchenne muscular dystrophy

Clinics

  • Quebec
    Qg – District Santé
    990 route de l’Église, local 302
    Quebec, Qc,  G1V 3V5
  • Blainville 
    75, boul. des Châteaux, #209
    Blainville, Qc, J7B 2A4
  • Montreal
    5045, rue Jean-Talon Est #203
    Saint-Léonard, Qc, H1S 0B6
  • Vaudreuil-Dorion
    11, boul. de la Cité-des-Jeunes, local 104
    Vaudreuil-Dorion, Qc,  J7V 0N3
  • Vaudreuil-Dorion
    Radimed – Ultrasounds
    65, boul. de la Cité-des-Jeunes
    Vaudreuil-Dorion, Qc,  J7V 7E6
  • Pointe-Claire
    Radimed – Ultrasounds
    215, av. Frobisher
    Pointe-Claire, Qc, H9R 4R9
  • Brossard
    Quartier Dix30
    9140, boul. Leduc, suite 235
    Brossard, Qc, J4Y 0L2
  • Saint-Paul (Joliette)
    756 Boul de l’industrie
    Saint-Paul, Qc, J0K 3E0

  • info@prenato.ca
    Quebec : 418-476-2155
    Montreal : 514-509-2066
    Toll Free :  1 877-362-8602