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Acute Hepatic Porphyria
Declaration of sponsorship Alnylam Pharmaceuticals

Testing

Declaration of sponsorship Alnylam Pharmaceuticals
Read time: 10 mins
Last updated:3rd Mar 2021
Published:3rd Mar 2021

Laboratory Testing

  • During a suspected porphyria attack, a urinary PBG/ALA test can enable the diagnosis of acute hepatic porphyria (AHP).1
  • The standard method for diagnosis for AHP is measurement of the urinary porphobilinogen, or PBG, using a spot urine sample (i.e., a single-void urine sample) (see figure).2,3
  • In fact, a 24-hour urine collection is not necessary nor recommended.4
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Genetic Testing

  • Genetic testing is also available as a confirmatory test for diagnosis after a complete biochemical evaluation has been done.1
  • Genetic testing can also determine acute hepatic porphyria (AHP) subtype (AIP, VP, HCP, or ADP) as well as identify at-risk family members once a mutation is identified in the family.1
  • Once AHP is confirmed or highly suspected, consulting with a genetic specialist is recommended.1
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