Disorders


 

Dihydropyrimidine Dehydrogenase Deficiency


Synonym(s): DPD Deficiency, Familial Pyrimidinemia, Hereditary Thymine-Uraciluria

 

OMIM

GeneLocusProtein
DPYD1p22Dihydropyrimidine dehydrogenase

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
  
bio.logis Center for Human Genetics - Frankfurt, Germany• Targeted mutation analysis
  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Sequence analysis of select exons
• Deletion/duplication analysis
  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Targeted mutation analysis
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Deletion/duplication analysis
• Mutation scanning of select exons
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia• Targeted mutation analysis
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Targeted mutation analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Targeted mutation analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA• Targeted mutation analysis
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Targeted mutation analysis
 
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region
• Analyte
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• Targeted mutation analysis
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay

* 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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