Orphanet: Molecular diagnosis of porphyria CPOX, PPOX, FECH, HMBS and UROD genes

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Molecular diagnosis of porphyria (CPOX, PPOX, FECH, HMBS and UROD genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 28/08/2019
  • Phone : 47 55 97 54 76
  • Additional Phone : -
  • Fax : 47 55 97 54 79
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Last update: August 2019

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (5)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.