Pan Ethnic Carrier Screen

The most advanced genetic test to identify the carrier status for inherited genetic diseases.

What does this test do?

This simple blood test, which can detect over 550 mutations in over 160+ inherited diseases, has been developed to identify a person’s carrier status for the most common genetic conditions causing severe pediatric diseases. Some of the diseases included are Cystic Fibrosis, Fragile-X, Tay-Sachs, Canavan disease, as well as several severe inborn errors of metabolism. This test includes the largest panel of Ashkenazi Jewish diseases available on the market today.

Why is this test important?

Traditionally, carrier tests were offered to people based on their specific ethnicity. However, in modern society, interracial unions are common and it is often inappropriate and inaccurate to ascribe a single ethnicity to many individuals. The Pan Ethnic Carrier Screen includes all the severe diseases prevalent in the major ethnic groups, together in one panel, and will be covered under GenPath’s existing contracts with most insurance carriers.

How is this different from what others offer?

There are only a few other tests currently on the market that can be compared to the Pan Ethnic Carrier Screen, but they are not available from full-service clinical laboratories and the companies offering the tests do not have existing insurance contracts. In addition, the GenPath test includes over 550 mutations while the closest competition only has about 300.

How much does this test cost?

For patients who want to pay directly, this test will cost $495 including Cystic Fibrosis and Fragile-X.

Does health insurance cover this test?

GenPath is currently contracted with all major insurance carriers as well as most regional and local carriers in addition to Medicare and Medicaid. This will be similar to getting any other routine blood test at the doctor’s office.

When is this test useful?

This test is useful to assess the risk of a couple having a child with a devastating genetic condition. Some people may want to know the risk before they decide to have a child, others may want to know when they are in the early stages of pregnancy, and some people may choose not to know. The choice and timing are both personal, but testing is most useful if performed prior to conception. GenPath recommends that all couples choosing to get tested should consult with a genetic counselor before getting the test to fully understand the benefits and limitations.

What can a person do with a positive result?

If a person is found to carry a mutation, then his/her reproductive partner should be tested immediately to determine if they also carry a mutation for that specific disease, which would put their offspring at risk. In addition, genetic counseling is recommended to discuss their risks and options.

What are some limitations of the test?

• The mutations included in the panel were selected based on currently available scientific literature. If an individual is a carrier of a mutation that is very rare, then that mutation may not be included in the panel, and the Pan Ethnic Carrier Screen will be unable to identify the individual as a carrier.
• This test will not identify mutations in genes or diseases that are not included in the panel. If the patient has a family history of a specific disease, GenPath recommends an evaluation of the family for the genetic basis of that disease first, followed by the Pan Ethnic Carrier Screen to determine carrier status for other severe disorders.

How can the test be ordered?

GenPath will offer this test through physician practices across the US starting early 2012.