Would you recommend urinary glycolate testing prior to genetic testing in a patient with elevated urinary oxalate and suspicion for primary hyperoxaluria type 1?
Answer from: at Academic Institution
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.
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...