Orphanet: Diagnosi della malattia di Charcot Marie Tooth [pannello di geni]
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Diagnosis of Charcot-Marie-Tooth disease [panel of genes]

  • U.O.C. Genetica Clinica ed Epidemiologica
  • Dipartimento di Salute della Donna e del Bambino
  • Azienda Ospedaliera di Padova
  • Via Giustiniani 2
  • 35128 PADOVA PD
  • ITALY
  • Director of laboratory : Pr Maurizio CLEMENTI
  • More information
  • Phone : 39 049 8213513
  • Additional Phone : -
  • Fax : 39 049 8217619
  • Website
  • Contact
Last update: November 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (39)
List of genes tested (including panels) (20)
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.