Orphanet: Diagnostic de la parapl�gie spastique h�r�ditaire Panel

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Diagnosis of hereditary spastic paraplegia (Panel)

  • UF de Neurogntique Molculaire et Cellulaire
  • Centre de gntique molculaire et chromosomique
  • APHP.Sorbonne Universit, Hpital de la Piti-Salptrire
  • 47-83 boulevard de l'Hpital
  • 75013 PARIS
  • Director of laboratory : Dr Eric LE GUERN
  • More information
  • Phone : 33 (0)1 42 17 76 52
  • Additional Phone : -
  • Fax : 33 (0)1 42 17 76 18
  • Website
  • Contact
Last update: February 2019

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
MLPA based techniques
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (54)
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