Cystic Fibrosis (34 Mutations + 1 polymorphism),By PCR, Blood

Cystic Fibrosis (CF) is an autosomal recessive genetically inherited disease affecting the CF transmembrane conductance regulator (CFTR) gene. The disease is characterised by thick mucous secretions that plug smaller airways of the respiratory tree and ducts of the pancreas, causing inflammation, infection, and progressive destruction of both organs. A three-nucleotide deletion mutation at codon 508 is found at world-wide frequency of 68%, but varies between 30 and 88%. More than 1400 mutations occurring throughout the gene have been reported so far. However, apart from the DF508 mutation, only five other mutations (G542X, G551D, R553X, W1282X, and N1303K) occur at frequencies greater than 1% in the majority of populations. An additional 10 mutations are found in common among caucasians but at very low frequency (0.25-0.5%).

This test is used in the diagnosis of cystic fibrosis. In addition to the most frequent mutations found world-wide, the current panel also includes the most common mutations found in Jordan and the Middle East.

2 ml EDTA Whole Blood Room Temperature

Collect in EDTA vacutainer tube. Avoid contamination with DNA of phlebotomist. Avoid haemolysed samples. Do not freeze samples. Send tube unopened.

Negative