TEST NAME
– Cystic Fibrosis
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ
ABOUT TEST
– Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene located on Chr. 7 is responsible for CFTR which represents an anion channel responsible for the salt, fluid and pH-balance in secretory and absorptive epithelial tissues, such as in the lungs or pancreas. Mutations in the CFTR gene lead to dysfunction of chloride transport across cell membranes, with production of thick, sticky mucus in multiple organs and increased sweat chloride levels which are diagnostic for CF disease. More than 1200 mutations are described since the cloning of CFTR gene, of which the DF508 mutation is the most frequent mutation responsible for 70% of CF alleles.
The frequency of other mutations is variable among different geographic groups. The majority of CFTR gene defects are point mutations out of which 42% are missense mutations, 24% small insertions/deletions with a frame shift, 16% nonsense mutations, 16% mutations of splicing and 2% deletion of an amino acid.
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ
GENES TESTED
– 35 genes
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ
SAMPLE REQUIREMENTS
– EDTA
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ
TAT
– 5
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ
Related Tests
–
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ