Frequently Asked Questions

---

GeneScreen inc. is a Canadian company based in Toronto, Ontario.  We facilitate expanded carrier screening (ECS) for over 700 rare autosomal recessive and X-linked genetic disorders, to help individuals and couples refine their genetic risk before planning a pregnancy or in early pregnancy. 

 Expanded carrier screening (ECS) is a DNA test that checks a healthy individual's carrier status for hundreds of inherited recessive genetic conditions, such as cystic fibrosis, spinal muscular atrophy, Duchenne muscular dystrophy and fragile X syndrome. ECS helps prospective parents understand their chances of passing on genetic conditions to their children. 

Carriers of most recessive conditions will not experience have any symptoms, and there would be no clues in their personal or family history that they are carriers.  It is only when two carriers for the same genetic condition decide to have a child, there is a chance they could pass down both copies to their baby, leading to symptoms in that child. 

Carriers of most recessive conditions will not experience have any symptoms, and there would be no clues in their personal or family history that they are carriers.  It is only when two carriers for the same genetic condition decide to have a child, there is a chance they could pass down both copies to their baby, leading to symptoms in that child.

While expanded carrier screening is very comprehensive, and a normal result is reassuring, it may  not detect all conditions that you carry.  There are several reasons for this:  You may carry a rare mutation that is not yet recognized as disease-causing.  There can also be limitations of the testing method itself.   Expanded carrier screening will not diagnose conditions that occur in a pregnancy after conception, like Down syndrome, spina bifida or a complex congenital heart defect (These are not inherited as single gene disorders).  

Once you decide to proceed, you will be provided with a consent form and secure payment link.  We will send a saliva collection kit  straight to your home with clear sample collection instructions, a return envelope, and Fedex pick up or drop off options.  Your report will be ready in 2-3 weeks, and will be shared directly with you via our secure client portal. There will be an option to book a follow up meeting with your genetic counsellor 

(at no additional cost) to review your result and recommendations.