Orphanet: Diagnostic des maladies lysosomales et des troubles du m�tabolisme des purines ou pyrimidines Panel
x

Search for a diagnostic test

*(*) mandatory field

Diagnosis of lysosomal disease and purine or pyrimidine disorders of metabolism (panel)

  • Biochimie mtabolomique et protomique
  • Dpartement de Biologie - Tour Lavoisier (4me tage)
  • Hpital Necker-Enfants Malades
  • 149 rue de Svres
  • 75743 PARIS
  • FRANCE
  • Director of laboratory : Pr Robert BAROUKI
  • More information
  • Phone : 33 (0)1 44 49 58 58
  • Additional Phone : -
  • Fax : 33 (0)1 44 49 51 30
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (119)
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.