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
Not provided.
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)
Other tests from different labs that may be relevant