Invitae Primary Hyperoxaluria Panel
Use
The Invitae Primary Hyperoxaluria panel analyzes 3 genes associated with primary hyperoxaluria, a disorder of glyoxylate metabolism associated with renal damage that may progress to kidney failure. The primary hyperoxalurias are inherited disorders of glyoxylate metabolism in which hepatic peroxisomal enzyme deficiencies result in excessive production of oxalate, leading to nephrolithiasis and nephrocalcinosis. These conditions may progress to end-stage renal disease and systemic oxalosis. Effects on kidney function vary by type, with different ages at progression to kidney failure observed between PH1, PH2, and PH3.
Special Instructions
Patients with PH1 showed a median age at progression to kidney failure of 33 years, while patients with PH2 and PH3 appear to have better outcomes. Primary hyperoxalurias often present with kidney stones, nephrolithiasis, or renal calcification without discrete stones. Recurring stones in childhood, adolescence, and adulthood are characteristic.
Limitations
The test achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp, and exon-level deletions and duplications. However, it may not detect structural rearrangements or variants within complex sequence architectures. Some limits exist in analyzing single-exon copy number events, and mosaicism or mapping ambiguity may not be fully resolved. Coverage limits include promoter regions, non-coding exons, and specific non-coding variants unless explicitly stated.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)