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Genvinset®

Genvinset® deltaF508

Kit for the detection of deltaF508 mutation in CFTR gene by real-time PCR technology using TaqMan® probes technology.

Information about the product

Cystic fibrosis (CF; OMIM #219700) is a genetic disorder that affects several different organs. Patients with CF generally suffer from obstructive lung disease with chronic bacterial infection, pancreatic enzyme insuffciency, and high salt content in their sweat. CF is caused by mutations in the CFTR gene (OMIM #602421) that encodes the CFTR protein. This anion channel regulates water and ion transportation and maintains epithelial surface hydration.

Cystic fibrosis is typical of an autosomal recessive type of inheritance. Although deletion of F508 (F508del or DF508) constitutes ~90% of all CF cases, more than 2100 variants of the CFTR gene have been identified. The distribution and frequency of the variants vary in different regions and ethnic groups. In Europe 82.4% of patients have at least one F508del mutation but the frequency of F508del is higher in Northern Europe than in Southern Europe.

The type II mutation F508del not only decreases the membrane expression but also impairs the channel function, thus causing a severe CF phenotype.

Intended Use

Genvinset® deltaF508 is a semi-automated in vitro diagnostic kit for the qualitative detection of wt and /or F508del alleles
(dbSNP: rs113993960 NM_000492.4:c.1521_1523delCTT) in the Cystic Fibrosis Transmembrane Conductance Regulator
(CFTR) gene (OMIM: 602421) associated with cystic fibrosis disease, in genomic DNA extracted from whole blood, by
Real-Time PCR using specific TaqMan® probes technology.

Patients who can benefit from this determination are those referred by a specialist. The results of this test should not be
the only ones on which the therapeutic decision is based and should be used as an aid in the diagnosis together with
results of other markers of the disease.

The intended user of the kit is technical personnel trained to carry out the protocol and the interpretation of results
described in the Instructions for Use.

 

Workflow

 

Results

Limitations

  • Mutations or polymorphisms at annealing primer/probe sites are possible and may result in the lack of allele definition. Other technologies could be necessary to resolve the genotyping.
  • Data and result interpretation should be revised by qualified personnel.
  • This product is an auxiliary tool for the diagnosis of patients with suspected cystic fibrosis. Use these results in conjunction with clinical data and results of other tests performed on the patient.

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