The results of the use of the new medical technology for comprehensive DNA analysis in neurofibromatosis

We report the results of comprehensive molecular genetic examination of patients with a clinical diagnosis of neurofibromatosis. To detect molecular genetic alterations characteristic for type 1 or type 2 neurofibromatosis we applied a set of new medical technologies, including tageted high-throughput parallel DNA sequencing (NGS) and multiplex ligation probe amplification (MLPA). Search for point mutations, small insertions / deletions / duplications in NF1 and NF2 genes was carried out with next generation sequencing on the Ion Torrent PGM. To identify extended deletions in NF1 and NF2 genes MLPA method was used. In a sample of 200 patients, mutations in NF1 and NF2 genes were detected in 48.5% of cases. MLPA technique has allowed us to identify deletions in the NF1 gene in 14 out of 100 patients tested. In case of detection of a mutation in a patient with neurofibromatosis, carrier status exclusion or confirmation in close relatives, and early diagnosis.

нейрофиброматоз 1 типа, нейрофиброматоз 2 типа, медицинская технология, высокопроизводительное параллельное секвенирование ДНК, MLPA, neurofibromatosis, medical technology, NGS, MLPA

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