VHL Gene, Erythrocytosis, Mutation Analysis, Varies
Use
The test is useful for diagnosing suspected JAK2-negative VHL-related erythrocytosis, characterized by lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit. Hereditary erythrocytosis is a condition that results from mutations in genes like VHL, EPOR, PHD2, and others, leading to abnormal regulation of red blood cell production. The assay evaluates the presence of sequence variants in the VHL gene, which is associated with erythrocytosis without the risks associated with polycythemia vera.
Special Instructions
Not provided.
Limitations
This test does not detect somatic or gonadal mosaicism. Sequence variations not covered by this assay or deep intronic variants might not be detected. False-negative or false-positive results could occur due to poor DNA quality or selective allelic drop-out. Results should be interpreted with caution, as some variants may be clinically benign and others might not be detected.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
No genes
Gene
LOINC Codes
- 82528-1 - VHL gene Full Mut Anl Bld/T Seq
- 42349-1
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 31208-2 - Specimen source
- 18771-6 - Provider signing name
Result Turnaround Time
14-20 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
1 mL
Causes for Rejection
All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |
| Refrigerated | Refrigerated |
| Frozen | Frozen |