Orphanet: Diagnosi della malattia di Charcot Marie Tooth autosomica dominante gene PMP22

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Diagnosis of Charcot-Marie-Tooth disease, autosomal dominant (PMP22 gene)

  • U.O.C. di Genetica Medica
  • Dipartimento Materno Infantile
  • A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
  • Via Fossato di Mortara 74
  • 44121 FERRARA
  • Director of laboratory : Pr Alessandra FERLINI
  • More information
  • Phone : 39 0532 974403
  • Additional Phone : 39 0532 237773
  • Fax : 39 0532 236157
  • Website
  • Contact
Last update: April 2019

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (1)
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