Orphanet: Diagnóstico de la enfermedad de Charcot Marie Tooth tipo 4A gen GDAP1

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Diagnosis of Charcot-Marie-Tooth disease type 4A (GDAP1 gene)

  • Unidad de investigacin en neurogentica
  • Fundaci Institut d'Investigaci en Cincies de la Salut Germans Trias i Pujol
  • Carretera de Can Ruti. Cam de les escoles s/n
  • 08916 BADALONA
  • Director of laboratory : Dr Antoni MATILLA-DUEAS
  • More information
  • Phone : 34 934 978 687
  • Additional Phone : -
  • Fax : 34 934 978 654
  • Website
Last update: October 2017

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

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