Disorders


 

GTP Cyclohydrolase 1-Related Disorders


Synonym(s): GCH1-Related Disorders

 

OMIM

GeneLocusProtein
GCH114q22.1-q22.2GTP 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.

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