Sample Report

Cystic Fibrosis Carrier Testing

Cystic Fibrosis (CF) Carrier Testing at Eurofins NTD, LLC. helps identify couples who carry mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, causing cystic fibrosis.

This safe and convenient prenatal test, which can be performed at the same time as Down syndrome screening, enables healthcare providers to determine if a patient is at increased risk of having a child born with CF.

The American College of Obstetricians and Gynecologists (ACOG) recommends that CF carrier screening be offered to all couples seeking prenatal care, not just those with a personal or family history of the disease. Cystic fibrosis has a higher carrier frequency in Caucasians, but is found in all ethnicities, as seen in the table below*.

Racial or Ethnic Group: Carrier Frequency

About Cystic Fibrosis**

  • Cystic Fibrosis affects approximately 30,000 people in the United States.
  • After sickle cell disease, CF is the second most common recessive disease.
  • Median age of survival for those with CF is 37 years.
  • More than 10 million Americans are symptomless carriers of the CF gene.

Test Highlights

Cystic Fibrosis Test Features:

  • Healthcare provider can conduct one risk counseling session with the patient covering Down syndrome and CF results at the same time
  • Results reported in 2 to 4 days
  • Clear and simple one page results report provided
  • Genetic Counselors available to answer physician questions on positive results
  • Mutation panel for 39 of the most common CFTR mutations and 4 polymorphisms known to cause CF
  • Includes the core panel of 23 mutations recommended by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG)
  • Provides high detection rates (see chart below)

Racial or Ethnic Group: Test Detection Rate

*ACOG Committee Opinion #325, 2005
**Cystic Fibrosis Foundation

DISCLAIMER: This test is a part of a lab service offering provided by Eurofins NTD, LLC. DNA extracted from a sample is tested for the 23 ACMG/ACOG recommended mutations plus an additional 16 polymorphisms within the Cystic Fibrosis Transmembrane Requlator (CFTR) gene. These mutations are screened for using the Luminex xTAG® Cystic Fibrosis 39 Kit v2 after multiplex polymerase chain reaction (PCR). The xTAG® Cystic Fibrosis 39 kit v2 has been cleared by the U.S. Food and Drug Administration (FDA) for use with human whole blood samples. The test result should always be interpreted in the context of clinical presentation and family history.