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HelpTest Code VHLE VHL Gene, Erythrocytosis, Mutation Analysis, Varies
Reporting Name
VHL Gene Erythrocytosis MutationsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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
Specimen 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 Type
VariesSpecimen Minimum Volume
Blood: 1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Reject Due To
All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.Reference Values
Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.
An interpretive report will be provided.
Interpretation
Evaluation and categorization of variants is performed using the most recent published American College of Medical Genetics recommendations as a guideline.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Multiple in silico evaluation tools may be used to assist in the interpretation of these results. The accuracy of predictions made by in silico evaluation tools is highly dependent upon the data available for a given gene, and predictions made by these tools may change over time. Results from in silico evaluation tools should be interpreted with caution and professional clinical judgment.
Day(s) Performed
Varies
Report Available
14 to 20 daysTest 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 |