Orphanet: Diagnostic de la neuropathie axonale autosomique r�cessive avec neuromyotonie g�ne HINT1
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Diagnosis of autosomal recessive neuromyotonia and axonal neuropathy (HINT1 gene)

  • UF de neurogntique hreditaire (UF 34427)
  • Centre de Biologie et Pathologie Est - Service de Biochimie Biologie Molculaire Grande Est
  • CHU de Lyon HCL - GH Est
  • 59 Boulevard Pinel
  • 69677 BRON CEDEX
  • FRANCE
  • Director of laboratory : Dr Philippe LATOUR
  • More information
  • Phone : 33 (0)4 72 12 95 01
  • Additional Phone : -
  • Fax : 33 (0)4 72 35 73 35
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (1)
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