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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 40 different known disease-causing CFTR mutations, including the 23 mutations recommended by the American College of Medical Genetics (ACMG) guidelines. For a more comprehensive approach, CFTR full gene sequence analysis is also available through Genetics Center's Molecular Laboratory.

Reasons for Referral

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

Testing Methods

DNA is chemically isolated and the areas of interest are amplified by polymerase chain reaction (PCR) and then sequenced using Next Generation Sequencing. Forty CFTR mutations and one normal variation are detected by this assay: DF508, 2184delA, 2789+5G>A, R1162X, 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. 

Only the mutations listed above will be reported.

Turn Around Time

7 days or fewer

Specimen Requirements and Shipping/Handling

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.


Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection

Send Specimen(s) to:

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


CPT Codes

CPT’s: 81220, G0452

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