Cystic Fibrosis (CFTR) Targeted Testing

Short Name: CFTR Targeted

Cystic Fibrosis (CF) is caused by a homozygous or compound heterozygous variant in the cystic fibrosis conductance regulator gene, CFTR. The disease damages an individual’s lungs, digestive tract and other organs and is often described as a triad of obstructive pulmonary disease, exocrine pancreatic insufficiency, and elevation of sodium and chloride concentration in sweat. Delayed puberty is common among CF patients and most males with CF are infertile. The c.1521_1523delCTT (p.Phe508del) variant on the CFTR gene has been identified in the Old Order Amish and will be analyzed by this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 219700
MedGen: 41393