Cystic Fibrosis Targeted Mutation Analysis


Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in the Caucasian population, with a carrier frequency of approximately 1 in 25. This condition affects epithelia of the respiratory tract, exocrine pancreas, intestine, male genital tract, hepatobiliary system, and exocrine sweat glands, resulting in complex multisystem disease. Disease expression is variable and can range from mild pulmonary and pancreatic involvement to severe progressive obstructive lung disease with pancreatic insufficiency and early mortality. Affected males are also typically infertile. CF occurs in approximately 1 in 3,200 Caucasian individuals, with a lower frequency in other ethnic and racial populations.

CFTR (cystic fibrosis transmembrane conductance regulator) is the only gene known to be associated with cystic fibrosis. To date, there have been more than 700 mutations and variations identified in the CFTR gene. The frequency of each mutation varies among different populations, both geographically and ethnically. Targeted mutation analysis at Genetics Center detects 41 different known disease-causing CFTR mutations, including the 23 mutations recommended by the American College of Medical Genetics (ACMG) guidelines. CFTR full gene sequence analysis is also available through Genetics Center Molecular Laboratory [click here].


  • Diagnostic clarification for individuals with elevated sweat chloride concentrations
  • Individuals with chronic lung disease, failure to thrive, or other evidence of cystic fibrosis
  • Carrier screening for prenatal patients
  • Carrier screening for individuals with a family history of cystic fibrosis



  • DNA is isolated and analyzed using Next Generation Sequencing. This technology uses Cleavase to recognize and cut structures formed by addition of oligonucleotides for CFTR mutations. Forty-one CFTR mutations and one known polymorphism are detected by this assay: DF508, 2184delA, 2789+5G>A, R1162X, I148T, R560T, delI507, A455E, 1898+1G>A, 711+1G>T, 3659delC, N1303K, 3120+1G>A, 3849+10kb, 1078delT, G551D, R334W, 621+1G>T, W1282X, 1717-1G>A, R117H, R553X, G542X, R347P, G85E, S549RA>C, Y122X, Y1092XC>A, R347H, 3876delA, S549RT>G, S549N, D1152H, 394delTT, 2183AA>G, 3849+4A>G, V520F, E60X, Q493X, 3905insT, Y1092XC>G, F508C.



  • 7 days



  • Blood: A single tube with 1-5 mL whole blood in EDTA (lavender top).
  • Saliva: To request a DNA Mouthwash Collection Kit please contact Genetics Center at (714)288-3500.
  • Shipping: Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection.


Send to:

Genetics Center
211 S. Main Street
Suite AA
Orange, CA 92868
Tel: (714)288-3500





  • CPT’s: 81220, G0452