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Diagnosis of lysosomal diseases (Panel)

  • Laboratoire de Biochimie Métabolique
  • Institut de Biologie Clinique
  • CHU de Rouen
  • 37 Bd Gambetta
  • 76000 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
  • Contact
Last update: June 2022

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
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 (90)
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