Disorders


 

Adenine Phosphoribosyltransferase Deficiency


Synonym(s): 2,8-Dihydroxyadeninuria, APRT Deficiency

 

GeneReviewOMIM

GeneLocusProtein
APRT16q24Adenine phosphoribosyltransferase

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Analyte
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• 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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