C0069
CFTR Gene Mutations for Cystic Fibrosis (6 Mutations)
| Number of Tests | 6 |
| Test Included | F508del, G551D, G542X, S549N, 1161 delC, 3849+10 kb C-T |
Test Details: Cystic fibrosis (CF), also known as mucoviscidosis, is a genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys and intestine. CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). This test detects the most rare 6 mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X) and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9 and 17b of the gene and presumed to cause cystic fibrosis (CF) in 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
4 working days
Gender
All
Organ
Multi-Organ
CFTR Gene Mutations for Cystic Fibrosis (6 Mutations)
4000
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