C0068
CFTR Gene Mutations for Cystic Fibrosis (27 Mutations)
| Number of Tests | 27 |
| Test Included | G85E, I148T, R117H, 621+1 G-T, 711+1G-T, 1078delT, R347P, R334W, 1161 delC, A455E, F508del, D1507, 1717-1G-A, G551D, G542X, S549N, R553X, R560T, 1898+1G-A, 2184delA, 2789+5 G-A, 3120+1 G-T, 3849+10 kb C-T, R1162X, 3659delC, W1282X, N1303K, All Mutations |
Test Details: Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene. The disease is characterized by pulmonary and gastrointestinal symptoms of varying severity. When both Parents are carriers, there is 50% probability of the offspring being a carrier and 25% risk of diseased offspring, at each conception. About 1200 CFTR mutations have been identified in CF. F508del is a relatively common mutation reported in the Indian CF patients.
Category
Molecular Genetics
Pre-test Information
Clinical and family history required. In case of AF or CVS sample: duly filled patients consent form, doctor prescription and signature on letterhead, registration number. Parental Mutation report is mandatory.
Report Delivery
5 working days
Gender
All
Organ
Multi-Organ
CFTR Gene Mutations for Cystic Fibrosis (27 Mutations)
7500
Most Searched Diagnostic Tests