Results of neonatal screening for hereditary metabolic diseases in the Republic of Kazakhstan for 2019 year
https://doi.org/10.25557/2073-7998.2020.07.76-77
Abstract
Mass examination of newborns in the neonatal screening program in the Republic of Kazakhstan is carried out for 2 hereditary diseases - phenylketonuria and congenital hypothyroidism. In 2019 pilot project was conducted for 1000 studies using tandem mass spectrometry of children under age of 1 year for 49 hereditary metabolic diseases.
About the Authors
A. S. Svyatov
LLP Center of Molecular Medicine
Russian Federation
Russian Federation
A. V. Murtazalieva
JSC «Scientific Center of Obstetrics, Gynecology and Perinatology»
Russian Federation
Russian Federation
G. S. Svyatova
JSC «Scientific Center of Obstetrics, Gynecology and Perinatology»
Russian Federation
Russian Federation
M. S. Kirikbaeva
JSC «Scientific Center of Obstetrics, Gynecology and Perinatology»
Russian Federation
Russian Federation
Review
For citations:
Svyatov A.S., Murtazalieva A.V., Svyatova G.S., Kirikbaeva M.S. Results of neonatal screening for hereditary metabolic diseases in the Republic of Kazakhstan for 2019 year. Medical Genetics. 2020;19(7):76-77. (In Russ.) https://doi.org/10.25557/2073-7998.2020.07.76-77
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