Primary Hyperoxaluria Panel
Use
This test is designed for individuals with a clinical or suspected diagnosis of primary hyperoxaluria. It includes sequencing and CNV analysis for 3 genes known to be associated with this condition, helping in the diagnosis and guiding the management of primary hyperoxaluria.
Special Instructions
Specimens can be submitted in various forms such as blood, DNA, buccal, tissue, and saliva. Ensure that you follow specific guidelines for each specimen type when preparing submissions. Standard requisition forms and adherence to outlined collection instructions are necessary to avoid delays.
Limitations
The test may not detect all forms of genetic variants such as very small CNVs, low-level mosaicism, or variants in regions with poor coverage or high homology. Results should be interpreted in the context of other clinical findings, and a negative result does not rule out a genetic disorder. Repeat testing or additional methods might be necessary in some cases.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided