Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism (frequency 1:10 000) and it is characterized by an increased level of blood phenylalanine. Excessive phenylalanine has a toxic effect on brain development, and if left untreated, leads to a severe and irreversible mental retardation of a patient. PKU is inherited in an autosomal recessive pattern and it is caused by mutations in phenylalanine hydroxylase gene (PAH). Identifying PKU disease-causing mutations is useful for refining the diagnosis, treatment optimization (possibility for implementation of Kuvan drug) and genetic counseling.

Material used for detection of PAH gene mutations is obtained by isolating DNA from the peripheral blood. Mutation detection is performed through the whole PAH gene screening (13 exons and their flanking intron regions) by DNA sequencing.

It is necessary to deliver 2.5 ml of peripheral blood using 3.8% sodium citrate as anticoagulant in vol/vol ratio 1:9. It is possible to deliver a blood sample that has already been frozen. The samples are accepted every day from 10 to 13h. There is possibility to deliver the sample via post express service. The analysis is performed within 15 working days. The results and the bill are sent to the patient's home address, or can be collected personally at the Institute from 10 to 16h every day.

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CONTACT:

  • dr Maja Stojiljković
  • dr Branka Zukić
  • dr Sonja Pavlović

Tel: +381 11 3976 445
Mob: +381 65 3976 445
Fax: +381 11 3975 808
e-mail: zmzg@sezampro.rs