Orphanet: Diagnostic des maladies lysosomales Panel
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Diagnosis of lysosomal diseases (Panel)

  • Laboratoire de biochimie médicale
  • 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 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (89)
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.