Cystic Fibrosis Carrier Testing

Cystic Fibrosis (CF) Carrier Testing at NTD Labs 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*.

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.

Cystic Fibrosis Test Features:

• Test performed on a simple dried blood spot card - avoids the need for phlebotomy, centrifugation or refrigeration
• Test can be performed on the same dried blood spot card and test requisition used for Down syndrome screening
• 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
• At home sample collection for the father if mother tests positive
• 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)

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