Orphanet: Diagnostic des leucodystrophies Panel
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Diagnosis of leukodystrophies (Panel)

  • UF de Génétique Moléculaire
  • Département de Génétique
  • CHU Paris - Hôpital Robert Debré
  • 48 boulevard Sérurier
  • 75019 PARIS
  • FRANCE
  • Director of laboratory : Pr Hélène CAVE
  • More information
  • Phone : 33 (0)1 40 03 57 11
  • Additional Phone : -
  • Fax : 33 (0)1 40 03 22 77
  • Website
  • Contact
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (122)
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.