Orphanet: Diagnostic du syndrome de Marfan et apparent�s Panel
x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of Marfan and Marfan related disorders (Panel)

  • DIAGMOL - Laboratoire de Diagnostic Molculaire et Gnomique
  • BATLab - Btiment des Laboratoires
  • Hpitaux Universitaires de Genve HUG
  • Rue Gabrielle-Perret-Gentil 4
  • 1205 GENVE
  • SWITZERLAND
  • Director of laboratory : Dr Jean-Louis BLOUIN
  • More information
  • Phone : 0041 (0)22 372 18 26
  • Additional Phone : -
  • Fax : 0041 (0)22 372 18 60
  • Website
Last update: August 2017

Purpose(s)

Post-natal diagnosis
Risk assessment

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)
Deletion / Duplication analysis
MLPA based techniques
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.