Orphanet: Diagnostic par spectrom�trie de masse de l_adr�noleucodystrophie : �tude des acides phytanique et pristanique, des acides gras C22 C26 � tr�s longue cha�ne et des phospholipides plasmalog�nes

Search for a diagnostic test

* (*) mandatory field

Mass spectometry diagnosis of adrenoleukodystrophy (Analytes: phytanic and pristanic acid, very long chain C22-C26 fatty acids and plasmalogen phospholipids)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 27/01/2015
  • Laboratoire de lipidomique
  • INSERM - Universit Paris 6 - Laboratoire commun de spectromtrie de masse
  • Facult de Mdecine Pierre et Marie Curie - Hpital Saint-Antoine
  • 27 rue de Chaligny
  • 75571 PARIS CEDEX 12
  • Director of laboratory : Dr Antonin LAMAZIRE
  • More information
  • Phone : 33 (0)1 40 01 14 90
  • Additional Phone : -
  • Fax : 33 (0)1 40 01 13 47
Last update: January 2015

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Biochemical genetics
Analyte / Enzyme assay

List of diseases and genes

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.