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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.
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.
Clinical Reference
1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-423
2. Online Mendelian inheritance in Man-OMIM. Available at http://www.omim.org/entry/263400
3. Bento C, Percy M, Gardie B, et al: Genetic basis of congenital erythrocytosis: mutation update and online databases. Hum Mutat 2014;35(1):15-26
4. Pastore Y, Jedlickova K, Guan Y, et al: Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. Am J Hum Genet 2003;73(2):412-419
5. Merchant SH, Oliveira JL, Hoyer JD, et al: Molecular Diagnosis. In Hematopathology. Second edition, Series editor John Goldblum. Edited by ED His. Churchill Livingstone. Hematopathology: A Volume in Foundations in Diagnostic Pathology Series. 2012
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 |