Primary Hyperoxaluria (PH)

Sponsored diagnostic testing programs for Primary Hyperoxaluria (PH)

Primary Hyperoxaluria is a group of rare, inherited metabolic disorders caused by defects in liver enzymes responsible for glyoxylate metabolism. These defects lead to excess oxalate production, resulting in recurrent kidney stones, nephrocalcinosis, progressive kidney damage, and, in severe cases, systemic oxalosis. Three genetic subtypes are known (PH1, PH2, PH3), with PH1 typically presenting the most severe course.

1 program found for Primary Hyperoxaluria (PH)

Programs

1 program
Primary Hyperoxaluria (PH)
NovoDETECT
Sponsored by
Novo Nordisk

NovoDETECT Primary Hyperoxaluria Panel

The NovoDETECT program provides clinicians in the US with access to a sponsored genetic test for patients suspected of primary hyperoxaluria (PH). The panel covers major PH-related genes and may clarify diagnosis when clinical or biochemical signs (stones, nephrocalcinosis, elevated oxalate) suggest PH. Results support patient counseling, guide care decisions, and enable genetic counseling — at no cost to patient or provider.

Nephrology
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Performing labBlueprint Genetics