Orphanet: Diagnostic de la maladie de Fabry Panel g�ne cible : GLA
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Diagnosis of Fabry disease (Panel; target gene : GLA)

  • Laboratoire de biochimie mdicale
  • Institut de Biologie Clinique
  • CHU de Rouen
  • 1 Rue de Germont
  • 76031 ROUEN CEDEX
  • FRANCE
  • Director of laboratory : Pr Soumeya BEKRI
  • More information
  • Phone : 33 (0)2 32 88 81 24
  • Additional Phone : -
  • Fax : 33 (0)2 32 88 83 41
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)
Biochemical genetics
Analyte / Enzyme assay
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