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Cystic Fibrosis (36 Mutation), Blood

7Day(s)

Cystic Fibrosis is an inherited genetic disease that affects primarily the GI and respiratory systems. It is carried as an autosomal recessive trait; the responsible gene being localized on the long arm of chromosome 7 which encodes a membrane-associated protein called the cystic fibrosis transmembrane conductance regulator (CFTR). Mutations in this gene lead to absent or defective CFTR production, causing Cystic Fibrosis (CF). Patients with CF have abnormal electrolyte and water movement in and out of the epithelial cells; losing excess sodium and chloride can affect the heart rhythm and may sometimes cause shock. This, in turn, leads to thick, sticky mucus in the lungs and pancreas that promote respiratory infections, and impaired protein digestion. It also causes infertility in men due to missing or underdeveloped vas deferens. 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.

Special Requirements

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

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