Molecular testing and genomic screening for phenylketonuria
Abstract
The article discusses the importance of molecular testing and genomic screening. The results of studies that identified the phenylalanine hydroxylase gene in patients with phenylketonuria found during neonatal screening in various ethnic groups are presented. It is noted that the gene phenylalanine hydroxylase is the main factor determining the phenotype of phenylketonuria. Identification of the spectrum of phenylalanine hydroxylase gene variants is important for early diagnosis, understanding of molecular mechanisms, clinical follow‐up, treatment, and genetic counseling.
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Keywords
molecular testing
phenylalanine hydroxylase gene
phenylketonuria
phenylalanine
ethnic groups fenilketonuriya, maddələr mübadiləsinin anadangəlmə pozulması, yenidoğulmuş uşaqların genetik skrininqi, fenilalanin hidroksilaz geni, fenilalanin, etnik qruplar новорожденные, молекулярное тестирование
ген фенилаланингидроксилазы
фенилкетонурия
фенилаланин
этнические группы
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