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

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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
  • 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


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)
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