C0070
CFTR Gene Mutations for Cystic Fibrosis (One Mutation F508del)
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 common mutation, DeltaF508 which is a deletion of three nucleotides resulting in loss of the amino acid phenylalanine (F) at the 508th position on the protein.
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
3 working days
Gender
All
Organ
Multi-Organ
CFTR Gene Mutations for Cystic Fibrosis (One Mutation F508del)
4000
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