MOLECULAR STUDY - CYSTIC FIBROSIS (EXONS 4,11,23--CFTR) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4089

Sample:	Whole blood EDTA (minimum 10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	35 days
Information:
Cystic fibrosis is an autosomal recessive disease of epithelial ion transport generated by mutations in the transmembrane conductance regulator gene of cystic fibrosis (CFTR). It is more common in Caucasians, and among these, in northern Europeans and Canada. The characteristics commonly associated with cystic fibrosis are pancreatic insufficiency, obstructive respiratory disease, nutritional problems and reproductive problems. Cystic fibrosis usually presents in childhood, although in a few cases (4%) are diagnosed in adulthood. The gene responsible for cystic fibrosis, the CFTR, is located on the long arm of chromosome 7 (7q31.2). CFTR dysfunction affects many organs, especially to upper and lower respiratory tract, pancreas, biliary system, the intestine, male genitalia and sweat glands. It has been identified more than 1400 mutations in the CFTR gene that cause cystic fibrosis, although between 60 and 70% of the patients are carriers of the same recurrent mutation (delta F508). We recommend starting the study by exon 10, which are located 60-70% of the mutations that cause cystic fibrosis.
Links:
OMIM Entry - # 219700 - CYSTIC FIBROSIS; CF
Orphanet- Cystic fibrosis
OMIM Entry - - 602421 - CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

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