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

  • S.O.D. Genetica Molecolare
  • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
  • Via Roma 67
  • 56126 PISA
  • ITALY
  • Director of laboratory : Dr Maria A CALIGO
  • More information
  • Phone : 39 050 992644
  • Additional Phone : 39 050 992907
  • Fax : 39 050 992895
  • Website
Last update: January 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)
Methylation analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (32)
List of genes tested (including panels) (13)
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.