Orphanet: Diagnostic du syndrome de Charcot Marie Tooth type 2B1 g�ne LMNA
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Diagnosis of Charcot-Marie-Tooth syndrome type 2B1 (LMNA gene)

  • Dpartement de Gntique Clinique - Institut de Pathologie et de Gntique (IPG)
  • Institut de Pathologie et de Gntique
  • Avenue Georges Lematre, 25
  • 6041 GOSSELIES
  • BELGIUM
  • Director of laboratory : Pr Karin DAHAN
  • More information
  • Phone : +32 (0)71 47 30 47
  • Additional Phone : +32 (0)71 44 71 81
  • Fax : +32 (0)71 34 78 61
  • Website
  • Contact
Last update: July 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2017
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.