Fast Five Quiz: Primary Hyperoxaluria Type 1 Screening and Diagnosis

Bradley Schwartz, DO


December 15, 2022

Given its wide availability, molecular genetic testing has become increasingly used for the diagnosis of PH1. Identifying AXGT gene mutations with molecular genetic testing may help to confirm a diagnosis of PH1 with high sensitivity and specificity. If no pathological variants are identified on genetic analysis, a liver biopsy to measure the activity of alanine-glyoxylate aminotransferase catalytic activity is considered. Additional genetic analysis of the GRHPR and HOGA1 genes can be performed to confirm or rule out PH2 and PH3, which may present similarly.

Learn more details about the diagnosis of PH1.

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