Orphanet: Diagnostik und Monitoring von St�rungen im Steroidmetabolismus mittels Gaschromatographie Massenspektrometrie GC MS Multisteroidanalyse oder LC Tandemmassenspektrometrie LC MS MS in Harn, Serum u. anderen K�rperfl�ssigkeiten oder Geweben
x

Search for a diagnostic test

* (*) mandatory field

Diagnostics and monitoring of steroid related disorders by gas chromatography-mass spectrometry or liquid chromatography-tandem mass spectrometry (steroid metabolomics)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 16/07/2014
  • Steroid- und Peptidhormonlabor der Abteilung für Allgemeinpädiatrie und Neonatologie
  • Kinderklinik des UKGM am Standort Gießen
  • Feulgenstraße 10-12
  • 35392 GIEßEN
  • GERMANY
  • Director of laboratory : Pr Stefan A. WUDY
  • More information
  • Phone : 49 (0)641 985 43476
  • Additional Phone : 49 (0)641 985 43451
  • Fax : 49 (0)641 985 43679
  • Website
  • Contact
Last update: July 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 (7)
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
Apparent mineralocorticoid excess
Congenital adrenal hyperplasia
Cushing syndrome
X-linked adrenal hypoplasia congenita
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.