PAH single gene test

PLUSbpg-method

Test code: S01350

Phenotype information

  • Hyperphenylalaninemia, non-PKU mild
  • Phenylketonuria

Alternative gene name

PH

Panels that include the gene

Gene Genomic location HG19 HGVS RefSeq RS-number Comment Reference
PAH Chr12:103237407 c.1199+17G>A NM_000277.1 rs62508613
PAH Chr12:103271835 c.353-507G>T NM_000277.1 rs863225301

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For pricing inquiries, please contact (support@blueprintgenetics.com) or call the sales support team +358 40 2511 372.

Total $
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Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.

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