Disorders


 

Gout, HPRT1-Related


Synonym(s): Kelley-Seegmiller Syndrome

 

OMIM

GeneLocusProtein
HPRT1Xq26.2Hypoxanthine-guanine phosphoribosyltransferase

Laboratory Test Method Prenatal Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  

* 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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