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Diagnosis of ABCB4 gene - related disorders (PFIC3, Intrahepatic cholestasis of pregnancy, Low phospholipid associated cholestasis)

  • DIAGMOL - Laboratoire de Diagnostic Molculaire et Gnomique
  • BATLab - Btiment des Laboratoires
  • Hpitaux Universitaires de Genve HUG
  • Rue Gabrielle-Perret-Gentil 4
  • 1205 GENVE
  • 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: September 2019

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (1)
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