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Diagnosis of Ehlers-Danlos syndrome and vascular diseases (Panel)

  • Service de génétique
  • CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
  • 20 rue Leblanc
  • 75015 PARIS
  • FRANCE
  • Director of laboratory : Pr Xavier JEUNEMAITRE
  • More information
  • Phone : 33 (0)1 56 09 38 81
  • Additional Phone : -
  • Fax : 33 (0)1 56 09 38 84
  • Website
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
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.