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What is your preferred method for diagnosing adenine phosphoribosyltransferase (APRT) deficiency in a patient with recurrent kidney stones and abnormal crystalluria?
Answer from: at Academic Institution
Genetic testing using a panel that includes APRT is the most reliable and straightforward thing to do.
There is not a laboratory in the United States currently that can measure urinary or blood dihydroxy adenine.
You can send a blood spot to the University of California San Diego lab for enzymatic...
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Answer from: at Academic Institution
Genetic testing using a nephrolithiasis gene panel is the most accessible and efficient way to diagnose APRT deficiency.