Genetic Testing: Counsyl Test

What is Counsyl testing?

The Counsyl test, also known as a Universal Genetic Test, is an optional test that is available to those considering pregnancy. The Counsyl test is designed to identify common changes, or mutations, in about 40 different genes.

If a change is found, it increases the chance of that person having a baby with a health problem. This test cannot determine if the baby actually has one of these conditions; instead it helps find couples that may be at a higher risk of having a baby with such a condition.

If a higher risk is identified, further tests that can confirm or rule out these conditions are available.

• Carrier: A person with a single gene change. They do not have any medical problems but have a higher chance of having a child with a problem.
• Noncarrier: A person that does not have any of the common gene changes.

All of the conditions tested for in the Counsyl test are inherited in an autosomal recessive manner. This means that in order to have an affected child, both parents must be carriers. If both parents are carriers, their chance of having an affected child is 25 percent. (See chart below)

What does the test involve?

A saliva sample is collected in a special tube, which is then mailed to a laboratory. There, DNA is isolated from the saliva and analyzed for common changes that cause about 40 different genetic disorders.

When will I get results? How are they reported?

The final results are available about in about two to three weeks after the saliva sample is sent to the laboratory. Results are emailed to your physician or genetic counselor. Results are reported as either “carrier” or “noncarrier.” If you are found to be a carrier for one or more conditions, a nurse will call you to set up an appointment with the genetic counselor.

What do I need to do if the results show that I am a noncarrier?

When the results show that you do not have the common mutations in the disorders tested for, it reduces the chance that you will have a child with that disorder. Counsyl testing can never eliminate the chance for these disorders. Many people feel reassured by results that are normal. Other people may wish to further reduce their risk by having their partner tested for these disorders as well.

What if my results show that I am a carrier?

A nurse will contact you to set up an appointment with the genetic counselor to review the results of the test if you are found to be a carrier for one more conditions. It is estimated that 20-30 percent of individuals taking this test will find that they are a carrier for at least one condition. However, the chance that both parents will be a carrier for the same condition is less than one percent. If your Counsyl test shows that you are a carrier for a condition, then testing your partner for this disorder may refine the risk to a pregnancy. A test result that shows that you have one of the common mutations for a disorder means that you have a higher chance of having a baby with that disorder, but it does not mean that a pregnancy will definitely have that specific genetic condition.

What is Tandem Screening?

Tandem screening involves testing both partners with the Counsyl test at the same time. Tandem screening allows faster identification of at-risk couples.

What if I have a family history of a genetic disorder?

Patients/couples with a family history of any genetic condition should discuss testing options with their doctor and/or genetic counselor.

What else does the Counsyl test detect?

Counsyl may also detect that you are a carrier of Factor V Leiden, which may indicate that you have a higher risk for clotting issues. Factor V Leiden does not cause birth defects, but your doctor may discuss treatment or surveillance during pregnancy.

What is the accuracy of the test?

Counsyl screens for common mutations in many different disorders. Since every ethnic group has certain genetic conditions that are more common, the detection rate will vary for each disorder.

Can all genetic conditions be detected by Counsyl or any other screening?

No, no test can guarantee a child free of birth defects or learning problems.

Where is the Counsyl test performed?

If you are interested in the Counsyl test, you will be given a card with the phone number for the Counsyl company and an identification number. The company will send you a test kit with instructions on how to collect a sample in the privacy of your own home. The salvia sample is sent back to the company using the mailer provided with the kit.

Questions?

Please feel free to contact us if you have any questions or concerns at (608) 824-6160.