-1592919662.png){kind=logo}
Home
HelpTest Code VHLE VHL Gene, Erythrocytosis, Mutation Analysis, Varies
Useful For
Diagnosis of suspected JAK2-negative VHL-related erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit
Method Name
Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
Reporting Name
VHL Gene Erythrocytosis MutationsSpecimen Type
VariesSpecimen Required
Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.
This test is only available as a reflex from the HEMP / Hereditary Erythrocytosis Mutations. VHLE is not a single orderable test.
Specimen Minimum Volume
Blood: 1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Reference Values
Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
14 to 20 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81404-VHL (von Hippel-Lindau tumor suppressor) (eg, von Hippel-Lindau familial cancer syndrome), full gene sequence
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| VHLE | VHL Gene Erythrocytosis Mutations | 82528-1 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 37840 | Result Summary | 50397-9 |
| 37841 | Result | 82939-0 |
| 37842 | Interpretation | 69047-9 |
| 37886 | Known Mut Reason for Referral | 42349-1 |
| 37843 | Additional Information | 48767-8 |
| 37844 | Specimen | 31208-2 |
| 37845 | Source | 31208-2 |
| 37846 | Released By | 18771-6 |