What Is Carrier Testing?
What Is Carrier Testing?
Think of it as an ultrasound for your DNA. Carrier testing is a way to see whether you “carry” certain gene mutations that do not affect you, but can affect your children. If both you and your partner are “carriers” of the same genetic disorder, your child has a significant chance of suffering from a serious genetic disease. The only way to know your carrier status is through testing.
We Are All Carriers
Each person is estimated to be a carrier of four to five lethal recessive mutations. The majority of genetic mutations are passed down quietly through the generations. More than 80% of children born with a preventable genetic illness have no family history of that disease.
Recommended Testing for All Adults
Every adult should be offered preconceptional genetic screening (Americal College Medical Genetics). Testing is the only way to learn whether your pregnancy will be at high risk. If you and your partner both test positive, your doctor can advise you on your options to improve the chances of a healthy baby.
Early Testing Allows Prevention
The earlier you know your carrier status, the more options you have available. Many couples who test positive choose IVF with preimplantation genetic diagnosis (PGD), a safe and well understood procedure for preventing genetic disease that has been used for many thousands of births world-wide since 1991.
For Both Men and Women
Because your child’s health depends on the genes of both you and your partner, we recommend that couples get tested together. If you take the test as an individual, we can provide a less precise but still highly useful estimate of your child’s risk for genetic disease.
Complementary to Prenatal Testing
It is advised to take the Universal Genetic Test before a pregnancy. The Counsyl test differs from tests such as Nuchal Translucency Screening or prenatal testing (Chorionic Villus Sampling or Amniocentesis) that are performed during the pregnancy. The results from a positive Counsyl test, in a couple, may form the basis for testing in pregnancy (prenatal testing). Prenatal testing is a specialized type of testing that is most commonly used to diagnose chromosome problems such as Down Syndrome. Preconceptional and prenatal tests have complementary roles in ensuring a health pregnancy.

