Invitae Nephrolithiasis Panel
Use
The Invitae Nephrolithiasis Panel analyzes genes associated with genetic causes of nephrolithiasis, including disorders like primary hyperoxaluria, hypophosphatasia, distal renal tubular acidosis, and others. It provides a broad panel for genetic causes of nephrolithiasis due to its genetically heterogeneous nature. This test allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication, helping to understand the genetic underpinnings of the condition.
Special Instructions
The test is performed at a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory. Full-gene sequencing and deletion/duplication analysis using next-generation sequencing (NGS) technology are conducted. The complete clinical description of the panel is available on the laboratory website for further details. It is important to consult the test definition on our website for details regarding regions or types of variants covered or excluded for this test.
Limitations
The assay achieves >99% analytical sensitivity and specificity for certain variants, but may have reduced sensitivity for certain types of larger insertions and deletions. Certain structural rearrangements and complex variants may not be detected. The analysis does not cover sequence changes outside clinically important regions, and some details such as mosaicism or mapping ambiguity may not be fully resolved. In very rare cases (e.g., due to recent blood transfusions), the DNA may not represent the patient's constitutional genome.
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)