Orphanet: Diagnostic des maladies peroxysomales dosage des acides gras � tr�s longue cha�ne du plasma, des acides pristaniques et phytaniques
x

Search for a diagnostic test

* (*) mandatory field

'Diagnosis of peroxisomal diseases (very long chain fatty acids assay in plasma; phytanic and pristanic acids assays)'

Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/06/2014
  • UF Biochimie des maladies neuromtaboliques
  • Dpartement de Biochimie mtabolique
  • APHP.Sorbonne Universit, Hpital de la Piti-Salptrire
  • 47-83 boulevard de l'Hpital
  • 75013 PARIS
  • FRANCE
  • Director of laboratory : Dr Claude JARDEL
  • More information
  • Phone : 33 (0)1 42 16 21 74
  • Additional Phone : -
  • Fax : 33 (0)1 42 16 20 33
  • Contact
Last update: June 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Biochemical genetics
Analyte / Enzyme assay
-

List of diseases and genes

List of diseases tested (1)
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.