Cystic Fibrosis is a progressive disorder that is associated with chronic lung disease including recurrent infections. Other common symptoms can include pancreatic insufficiency, malnutrition, and infertility in males. The average age of survival is mid- to late 30’s. It is an autosomal recessive disease caused by mutations in the CFTR gene. It is more common in the Caucasian population, including individuals of Ashkenazi Jewish descent, in whom the carrier rate is 1 in 25. Individuals of Ashkenazi Jewish descent with negative family history who test negative for this 32-mutation CFTR gene panel have a revised carrier risk of 1 in 868.
Specific mutation mutation analysis for a panel of 32 mutations in the CFTR gene by pyrosequencing. The mutations are: deltaF508, deltaI507, A455E, E60X, G542X, G551D, G85E, N1303K, R117H, R334W, R347P, R553X, R560T, R1066C, R1162X, S492F, S549N, W1282X, 394delTT, 406-1G>A, 621+1G>T, 711+1G>T, 1717-1G>A, 1898+1G>A, 2055del9>A, 2105-2117del13insAGAAA, 2184delA, 2789+5G>A,3120+1G>A, 3849+10kbC>T, 3659delC, 3876delA.
Specific mutation analysis for individual mutations previously identified in a family member is also available.
The mutation detection rate in the Ashkenazi Jewish population is 97%.