von Hippel-Lindau Disease (VHL): VHL (OPT) (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of VHL; identify presymptomatic family members
Special Instructions
In cases where a known mutation is documented, the physician may choose to order test 252562 instead of this test. Also, samples may be stored temporarily at 4°C and need to be shipped overnight at room temperature.
Limitations
This methodology does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements. It also does not effectively identify deep intronic variants. This test may be affected by allele-dropout, might not allow determination of the exact number of T/A or microsatellite repeats, and it cannot conclusively determine whether two heterozygous variants are present on the same or different chromosome copies. Additionally, the test has not been cleared or approved by the Food and Drug Administration.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 41043-1
- 41043-1
Result Turnaround Time
21-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
Not provided
Container
Lavender-top (EDTA) tube
Collection Instructions
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | brief periods at 4°C |