Orphanet: Molecular diagnosis of X Linked Dominant Charcot Marie Tooth disease GJB1 gene: Sequencing of the entire coding region of gene s

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Molecular diagnosis of Charcot-Marie-Tooth disease type 4C (SH3TC2 gene: Sequencing of the entire coding region of gene (s))

Despite our efforts to ensure that data is up to date, this activity has not been validated since 10/06/2014
  • Neurogenetics Unit
  • Department of Molecular Neuroscience, UCL Institute of Neurology
  • National Hospital for Neurology and Neurosurgery
  • Queen Square, Box 102
  • Director of laboratory : Dr Mary SWEENEY
  • More information
  • Phone : 44 (0)203 448 4250
  • Additional Phone : 44 (0)203 448 4282
  • Fax : 44 (0)203 448 8784
  • Website
Last update: June 2014

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region

List of diseases and genes

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