Disorders


 

Xanthinuria, Type I


Synonym(s): Xanthine Dehydrogenase Deficiency, Xanthine Oxidase Deficiency

 

OMIM

GeneLocusProtein
XDH2p23.1Xanthine dehydrogenase/oxidase

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Analyte
  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
• Linkage analysis
  
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic• Sequence analysis of the entire coding region
 

* 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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