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
Orderable as part of GeneDx’s Metabolic Disorders testing menu; test requisition code is TG90 (Primary Hyperoxaluria Panel); alternate specimen types include whole blood, buccal swab, or extracted DNA. Please refer to GeneDx test menu and requisition forms for collection kit details.
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
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided