Genetic Diagnosis of Phenylketonuria. Analysis of the PAH Gene

Qualitative analysis of human DNA samples obtained from clinical biomaterial for the detection of single or multiple mutations in the phenylalanine hydroxylase (PAH) gene associated with the development of the congenital genetic disease phenylketonuria (PKU), using the method of multiplex polymerase chain reaction (PCR) and hybridization on a DNA microarray. Target analyte: 33 mutations in the PAH gene. Determination format: qualitative.

Phenylketonuria is an autosomal recessive monogenic disease caused by mutations in the PAH gene, located on the long arm of chromosome 12, region 12q22-q24.1. Disruption of the synthesis of the enzyme phenylalanine-4-hydroxylase leads to the accumulation of phenylalanine and its metabolites in the body's biological fluids. Failure to observe a low-protein diet leads to the development of severe lesions of the central nervous system and mental retardation (phenylpyruvic oligophrenia). It is one of the few hereditary diseases that can be successfully treated. However, the result of treatment is entirely determined by timely diagnosis. Although late initiation of treatment provides some effect, it does not eliminate the previously developed irreversible changes in brain tissue.

Examination results are issued with interpretation by a geneticist.

Within 11 days