Primary Hyperoxaluria Panel
Use
This test is a multi-gene panel to aid in diagnosis of primary hyperoxaluria, an inherited disorder of glyoxylate metabolism that leads to excessive oxalate production, kidney stone formation, nephrocalcinosis, end-stage renal disease, and systemic oxalosis; variants in AGXT, GRHPR, and HOGA1 are assessed to differentiate among types I, II, and III.
Special Instructions
Not provided.
Limitations
Limitations are not explicitly provided in the sourced content; detailed technical limitations, analytic sensitivity, coverage regions, and interpretive caveats are not available in the primary rendered content or accessible via forms; refer to GeneDx website or data sheet for full limitations.
New York Approved
Methodology
NGS
Biomarkers
AGXT, GRHPR, HOGA1
Gene
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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