Disorders

ABCB11-Related Intrahepatic Cholestasis

Synonym(s): Bile Salt Export Pump Deficiency, BSEP Deficiency

Gene	Locus	Protein
ABCB11	2q24	Bile salt export pump

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany	• Linkage analysis
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Linkage analysis
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Cliniques universitaires Saint Luc, Center for Human Genetics - Brussels, Belgium
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.