Search academic texts

Information × Registration Number 0219U102390, 0118U100476 , R & D reports Title Molecular Genetic Test System for the Diagnosis of Primary Immunodeficiencies - XLA in Children popup.stage_title Head Telegeev Gennadiy D., Доктор біологічних наук Registration Date 28-12-2019 Organization Institute of Molecular Biology and Genetics of NAS of Ukraine popup.description2  Two test systems, the "BTK test" and the "BTK DNA test", have been created to detect RNA and DNA mutations of the BTK gene. The first is intended mainly for the primary analysis of blood samples of patients with suspected hereditary hypogammaglobulinemia by using reverse transcriptase polymerase chain reaction with direct sequencing of the obtained DNA fragments. The other, by using DNA sequence analysis, is proposed to be used mainly for genealogical research in order to identify possible carriers of mutations already detected, but it can also be used to establish the type of mutation of the BTK gene de novo. Supporting documentation was made in the form of protocols of working diagnostic methodology for the detection of these disorders using the proposed test systems for use in molecular genetic laboratories. Product Description popup.authors Dybkov Mykhaylo V. Shvachko Ludmila P. popup.nrat_date 2020-04-02 Close