First, it is diagnostic microarray kit "Cystic fibrosis-BioChip" for detection 25 mutations in CFTR gene that has been registered in Federal Service on Surveillance in Healthcare of Russian Federation (Roszdravnadzor) and launched. And second, it is the advanced assay (implemented by Sequoia genetics, an Alkor Bio subsidiary) being prepared for clinical trials: the diagnostic solution based on NGS-sequencing for the detection of three severe inherited diseases (cystic fibrosis, phenylketonuria, galactosemia). This project called "Neonatal NGS-gene diagnostics" is being implemented with the support of Skolkovo and Medical Genetic Research Center of Russian Academy of Medical Science.

Alexander Pavlov, head of the Laboratory of Molecular Diagnostics Alkor Bio, Sequoia Genetics CEO, will deliver the report "DNA-diagnostics of cystic fibrosis using high-performance methods of analysis" at the Congress.

- Despite the fact that our diagnostic solution is at the beginning stage of clinical trials, we have already received the first results suggesting the efficacy of mutation detection in both routine and complex cases of the disease, - says Alexander Pavlov. - Therefore, in my report I will also discuss interesting clinical cases we investigated using this technology. In particular we found two rare mutations in patient that have been previously described only few times in the world. This case is unique because such combination of these two mutations was until not revealed. The patient had typical form of cystic fibrosis at late manifestation. And this is just a one case of the successful use of new technology.

Different experts in field of diagnostics and healthcare professionals will attend the Congress. A lot of reports will focus on DNA- and biochemical diagnostics of cystic fibrosis, neonatal screening result analysis, treatment efficacy, as well as rare or unusual cases in clinical practice.

Venue: Moscow, Leninsky Prospekt 117, Ministry of Health Russian Children's Clinical Hospital