Genetic Carrier Screening

Highly recommended for all couples planning to conceive


What is Genetic Carrier Screening?
Genetic carrier screening is a type of test that can tell you whether you carry a gene for certain genetic disorders. 


What is Genetic Carrier Screening used for? 

Everyone carries abnormal genes, and in general, carriers have no symptoms or signs of the disease they carry. Carrier screening determines whether an individual carries a change in one of their genes and if they are at increased risk of having a child affected with a genetic disease.


Carrier screening is available for a limited number of diseases as follow:

  • Cystic fibrosis
  • Fragile X syndrome
  • Sickle cell disease
  • Tay-Sachs disease 


Who should consider genetic carrier screening? 

All women who are considering getting pregnant or who are already pregnant are offered carrier screening for cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy (SMA).


How does the Genetic Carrier Screening performed?

Carrier screening involves testing a sample of blood from one or both parents, it allows you to find out your chances of having a child with genetic disorder. The Genetic Carrier Screening can be done before or during the pregnancy; however, getting tested before pregnancy gives you a greater range of options and more time to make decisions since the result usually comes out about 4-6 weeks. 

There are two approaches to carrier screening for additional disorders:

  • Target Carrier Screening: Tested for disorders based on your ethnicity or family history.
  • Expanded Carrier Screening: This type of screening is done without regard to race or ethnicity. 


How to interpret Genetic Carrier Screening results?
The results will show as positive, Negative, or uncertain. 

  • Positive – the test found a genetic change known to cause disease.
  • Negative – the test did not find a genetic change known to cause disease. Sometimes a negative result occurs when the wrong test was ordered or there isn’t a genetic cause for that person’s symptoms. A “true negative” is when there is a known genetic change in the family and the person tested did not inherit it. If your test results are negative and there is no known genetic change in your family, a negative test result may not give you a definite answer. This is because you might not have been tested for the genetic change that runs in your family.
  • Uncertain – a variant of unknown or uncertain significance means there isn’t enough information about that genetic change to determine whether it is benign (normal) or pathogenic (disease causing).