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Nzoz genomed > Genetic tests > Tests list

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Genetic testing

Phenylketonuria

Genetic Testing Offered by NZOZ Genomed

Test DescriptionThe CodePriceTurnaround time
Phenylketonuria
Identification of the most frequent mutations p.Arg408Trp, p.Arg158Gln, c.1315+1G>A (IVS12+1G>A) and c.1066-11G>A (IVS10-11G>A) as well as of other mutations in exons 5, 11 and 12 of the PAH gene
   We perform genetic testing from:
  • saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
  • venous blood collected into a morphological tube containing EDTA
PAH-1 450.00 zł up to 3 weeks



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