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, ΔF508 which is a deletion of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein. This mutation accounts for two-thirds of CF cases worldwide and 90% of cases in the United States.

  • Test Type:
  • Pre-test Information:
    Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
  • Report Delivery:
    Sample Daily by 11 am; Report 6 weeks
  • Components:

cystic fibrosis mutation detection in other Cities