Orphanet: Diagnosi molecolare della malattia di Refsum geni PHYH e PEX7

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Molecular diagnosis of Refsum Disease (PHYH and PEX7 gene)

  • U.O.C. Laboratorio di Genetica Medica
  • Dipartimento dei Laboratori
  • IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
  • Viale di San Paolo 15
  • 00146 ROMA RM
  • Director of laboratory : Dr Antonio NOVELLI
  • More information
  • Phone : 39 06 68592320
  • Additional Phone : 39 06 68592038
  • Fax : 39 06 68592536
  • Website
Last update: June 2017

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) (2)
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.