Disorders

Maturity-Onset Diabetes of the Young Type 1

Synonym(s): HNF4A-Related Diabetes Mellitus, MODY Type 1, HNF4A-Related Maturity-Onset Diabetes of the Young Type 1, HNF4A-Related Maturity-Onset Diabetes of the Young Type I, HNF4A-Related MODY1

OMIM

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

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
Cologne University, Institute of Human Genetics - Cologne, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany	• Mutation scanning of the entire coding region
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands
Medgene, MedGene - Bratislava, Slovakia
Odense University Hospital, Department of Genetics - Odense, Denmark
Praxis fuer Humangenetik Wien - Vienna, Austria
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain	• Linkage analysis
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium

^* 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.