Orphanet: Diagnosi molecolare dell_eritrocheratodermia variabilis, tipo Mendes da Costa geni GJB3 e GJB4

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Molecular diagnosis of Erythrokeratodermia variabilis, Mendes da Costa type (GJB3 and GJB4 genes)

  • 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)
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