MOLECULAR STUDY - CYSTIC FIBROSIS (CFTR) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4095

Sample:	Whole blood EDTA (minimum 10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	50 days
Information:
Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. It is the most common genetic disorder among Caucasian children. The disease is chronic and generally progressive, with onset usually occurring during early childhood or, occasionally, at birth (meconium ileus). Virtually any internal organ may be involved but the principle manifestations concern the breathing apparatus (chronic bronchitis), pancreas (pancreatic insufficiency, adolescent diabetes and occasionally pancreatitis) and, more rarely, the intestine (stercoral obstruction) or liver (cirrhosis). The most common form of cystic fibrosis is associated with respiratory symptoms, digestive problems (steatorrhea and/or constipation) and staturoponderal growth anomalies. Mortality and morbidity depend on the extent of bronchopulmonary involvement. Male sterility is a constant feature. Late-onset forms, which are usually only mild or monosymptomatic, have also been reported. CF is characterized by alterations in the CFTR protein, which plays a role in the regulation of transmembrane hydroelectrolytic flux. Alterations in the protein lead to changes in the characteristics of exocrine excretions. An absence of functional CFTR in the epithelial cell membrane leads to the production of sweat with a high salt content (associated with a risk of hyponatremic dehydration) and mucus secretions with an abnormal viscosity (leading to stasis, obstruction and bronchial infection). Cystic fibrosis is a monogenic autosomal recessive disease caused by mutations in the CFTR gene (chromosome 7). More than 1250 mutations have been reported. Nearly 70% of all cases are caused by the delta F508 allele, with 30 other mutations accounting for a further 20% of cases. There is no clear correlation between genotype and phenotype. In addition to the allelic heterogeneity and the occurrence of multiple mutations in the same gene, a wide range of other factors may influence the phenotype, including the environment and disease modifying genes.
Links:
OMIM Entry - # 219700 - CYSTIC FIBROSIS; CF
Orphanet- Cystic fibrosis
OMIM Entry - - 602421 - CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

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