von Hippel-Lindau Disease (VHL): VHL (NEP) (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of VHL; identify presymptomatic family members
Special Instructions
In cases where a specific mutation is known to be present in the family, the physician might prefer ordering test 252747 instead. Samples should be shipped overnight at room temperature.
Limitations
This sequencing method does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements. It also cannot accurately detect deep intronic variants, distinguish T/A or microsatellite repeat numbers accurately, or determine if heterozygous variants are on the same or different chromosomes. Additionally, the assay may be affected by allele dropout. Note that the test has not been cleared or approved by the FDA.
Methodology
NGS
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
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant.