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Would you recommend urinary glycolate testing prior to genetic testing in a patient with elevated urinary oxalate and suspicion for primary hyperoxaluria type 1?

2 Answers
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Nephrology · NYU Grossman School of Medicine
Answered on

Genetic testing today is much easier than urinary glycolate testing. Sending a saliva specimen is certainly more convenient than doing a 24-hour urine collection. At the moment, via pharma, the testing is free, so that is not a relevant variable either.

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Mednet Member
Mednet MemberInvited Expert
Nephrology · Mayo Clinic
Answered on

Genetic testing is fairly available these days, and usually not terribly expensive. Thus, I would never triage a patient where there is any reasonable suspicion of PH1 and would certainly get the genetic testing. That said, the urinary metabolites can be helpful for interpreting genetic findings, es...

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