Disorders

ABCC8-Related Hyperinsulinism

Gene	Locus	Protein
ABCC8	11p15.1	ATP-binding cassette transporter sub-family C member 8

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Hadassah-Hebrew University Medical Center, Endocrinology and Metabolism Service - Jerusalem, Israel	• Targeted mutation analysis
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA	• Targeted mutation analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory (DNA Division) - New York, NY, USA	• Targeted mutation analysis
Odense University Hospital, Department of Genetics - Odense, Denmark	• Targeted mutation analysis • Linkage analysis
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel	• Linkage analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* 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.