Orphanet: Diagnostic du syndrome de West g�ne SPTAN1
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Diagnosis of West syndrome (SPTAN1 gene)

  • Laboratoire de Neuogntique Molculaire
  • CHU Paris Est - Hpital d'Enfants Armand-Trousseau
  • 26 avenue du Docteur Arnold Netter
  • 75012 PARIS CEDEX 12
  • FRANCE
  • Director of laboratory : Dr Lydie BURGLEN
  • More information
  • Phone : 33 (0)1 44 73 67 27
  • Additional Phone : 33 (0)1 71 73 81 78
  • Fax : 33 (0)1 44 73 53 51
  • Website
  • Contact
Last update: February 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing

List of diseases and genes

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