Disorders

HNF4A-Related Hyperinsulinism

Gene	Locus	Protein
HNF4A	20q13.12	Hepatocyte nuclear factor 4-alpha

Laboratory	Test Method	Prenatal	Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany	• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany	• Sequence analysis of the entire coding region
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Odense University Hospital, Department of Genetics - Odense, Denmark	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis

^* 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.