Disorders

GLUD1-Related Hyperinsulinism

Synonym(s): Hyperinsulinism-Hyperammonemia Syndrome

Gene	Locus	Protein
GLUD1	10q23.2	Glutamate dehydrogenase 1

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
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
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Hadassah-Hebrew University Medical Center, Endocrinology and Metabolism Service - Jerusalem, Israel
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Odense University Hospital, Department of Genetics - Odense, Denmark
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain	• Sequence analysis of select exons
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.