FAST-CFTR® SEQUENCING KIT

FAST-CFTR® NGS SEQUENCING KIT is a next generation sequence analysis based kit developed to investigate mutations that occur on the CFTR gene in the DNA molecules isolated from blood or tissue. Enrichment of the CFTR gene by a single PCR process in a total of 3 tubes and a single conduit allows rapid and low-cost screening of the cystic fibrosis disease by a next generation sequence analysis method.

USAGE AREAS

The accurate and rapid screening of cystic fibrosis disease is of paramount importance in the diagnosis of this extremely common disease. Individuals with cystic fibrosis may have complaints related to the respiratory, gastrointestinal, and reproductive systems. In these cases, it is crucial that awareness of cystic fibrosis is increased and the situation clarified by a genetic test.

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Description

Cystic fibrosis is an autosomal recessive disease that occurs in one in every 2,500 live births in many communities. The mutations in the gene that codes the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which acts as a chlorine channel, are responsible for this disease. The epithelial cells in the intestines and respiratory system, pancreatic cells and sweat glands are directly affected by this disease. The increased mucus production accompanying the reduced mucociliary activity results in obstructive pulmonary disease and bacterial infections, which lead to death due to respiratory failure, are the main cause of mortality in patients with cystic fibrosis.

Pancreatic failure may also be observed in patients due to the inability to release sufficient digestive enzymes. 97-98% of men with cystic fibrosis also suffer from azoospermia due to the absence of bilateral congenital vas deferens (CBAVD). In addition, fertility problems may occur in female patients due to impaired cervical mucus quality. To date, approximately 1,800 mutations have been identified in the CFTR gene.

The size of the CFTR gene (27 coding exons) renders the molecular diagnosis of the disease difficult.

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Additional information

TECHNICAL SPECIFICATIONS

Number of Tests 50 reactions
Transportation Conditions With dry ice and cold chain
Main Material DNA
Storage -20°C
Sequence Type NGS
Kit Content PCR Mix, Primer Mix-I, Primer Mix-II