Disorders

GTP Cyclohydrolase 1-Related Disorders

Synonym(s): GCH1-Related Disorders

Gene	Locus	Protein
GCH1	14q22.1-q22.2	GTP cyclohydrolase 1

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
bio.logis Center for Human Genetics - Frankfurt, Germany
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Justus-Liebig University, Institute of Human Genetics - Giessen, Germany
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA
Medgene, MedGene - Bratislava, Slovakia
Medical Neurogenetics - Atlanta, GA, USA	• Analyte • Enzyme assay
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Analyte
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands

^* 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.