Orphanet: Diagnostic de la maladie lysosomale Panel
x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of lysosomal disease (Panel)

  • Service Biochimie et Biologie Moléculaire Grand Est - UM Maladies Héréditaires du Métabolisme
  • Centre de Biologie et Pathologie Est
  • CHU de Lyon HCL - GH Est
  • 59 Boulevard Pinel
  • 69677 BRON CEDEX
  • FRANCE
  • Director of laboratory : Dr Cécile ACQUAVIVA-BOURDAIN
  • More information
  • Phone : 33 (0)4 72 12 96 32
  • Additional Phone : -
  • Fax : 33 (0)4 72 12 97 20
  • Contact
Last update: February 2019

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)
Deletion / Duplication analysis
PCR based techniques

List of diseases and genes

List of diseases tested (87)
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.