Set "Cystic fibrosis-biochip" for the simultaneous detection of 25 of the most frequently occurring in the territory of the Russian Federation mutations CFTR (cystic fibrosis transmembrane regulator), related to the development of cystic fibrosis, has received CE-mark.
Set "Cystic fibrosis-biochip" designed for DNA diagnostics
CE-mark confirms compliance with diagnostic kit "Cystic fibrosis-biochip" safety requirements for the consumer, the following Directives of the European Community and the European shows this as a test system.
In the framework developed GK Alcor Bio test system "Cystic fibrosis-biochip" lay down the principle of the analysis on the biochip (microarray). Target DNA corresponding to wild type alleles and mutations applied to the substrate using robotic printing system. Labeled probes were synthesized by amplification of the patient’s DNA by asymmetric PCR followed by a hybridization of them (there is the glow of the corresponding points). The results are read by a scanner for biochips.
After analyzing the results of specialized software makes its own statement about a patient of mutant alleles CFTR. A set of "Cystic fibrosis-biochip" can detect cystic fibrosis in 95% of cases. To assay set sufficiently DNA concentration of 1 ng / ml. The source of the genomic DNA may be used — venous blood or buccal epithelium, it is very important that the dry blood spot.
Cystic fibrosis— Genetic monogenic autosomal recessive disorder caused by a mutation of the gene cystic fibrosis transmembrane conductance regulator (CFTR). The disease is characterized by impaired secretion of exocrine glands vital organs with lesions primarily the respiratory and gastrointestinal tract, severe and unfavorable prognosis. For early treatment of cystic fibrosis, which provide a higher therapeutic effect and improve the prognosis of the disease with the possibility to extend the life of the patient up to 30 — 45 years, early diagnosis is needed — the first weeks after birth.
The emergence of the Russian market of diagnostic kit "Cystic fibrosis-biochip" will allow multiplex analysis of mutations of the CFTR gene formulation of a single test. The possibility of automating the process of setting and ease of interpretation of the results at a low cost makes "Cystic fibrosis-biochip" ideal solution for laboratories performing mass screening of newborns and centers conducting genetic analysis of prospective parents in family planning.
Since 2006, the number of regions of Russia, and from January 1, 2007 within the framework of the priority national project "Health" in all subjects of the Russian Federation cystic fibrosis has been included in the list of inherited diseases subject to mandatory newborn screening. However, the diagnosis of the disease is still not up to par. According to the Russian Center for cystic fibrosis, in which there are children under 18 years of age, which was first diagnosed with cystic fibrosis, an average of Russia amounted to 30.3 months in Moscow — 23.0 months, whereas in Western Europe and North America, the figure was 11.0 mesyatsam.Pri development in most patients the clinical picture of the disease in the first year of life in this age of diagnosis was installed in only one third of them. One of the main reasons for late detection of cystic fibrosis is adopted in the RF circuit screening. Screening protocol includes 4 stages: determination of biochemical markers, immunoreactive trypsinogen (IRT), re-test on the IRT, sweat test and DNA diagnostics — and only the first three are obyazatelnymi.Poyavlenie registered diagnostic kit for cystic fibrosis in the Russian market will adjust the scheme neonatal screening the breeding of DNA diagnostics for the second phase of testing or conducting parallel with the IRT test. Replacement re-test on the IRT genetic analysis will reduce the likelihood of a false diagnosis, increase the speed of diagnosis and reduce the overall cost of neonatal screening algorithm.Earlier this on CBS: