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HelpTest ID: VHLZZ Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies
Ordering Guidance
For patients suspected of having hereditary erythrocytosis or polycythemia, order HEMP / Hereditary Erythrocytosis Mutations, Whole Blood.
For a comprehensive hereditary cancer panel that includes the VHL gene, consider one of the following tests:
-ENDCP / Hereditary Endocrine Cancer Panel, Varies
-HPGLP / Hereditary Paraganglioma/Pheochromocytoma Panel, Varies
-RENCP / Hereditary Renal Cancer Panel, Varies
Testing for VHL gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for this gene. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Inherited Cancer Syndromes Patient Information Sheet (T519)
3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.
Useful For
Evaluating patients with a personal or family history suggestive of Von Hippel-Lindau (VHL) syndrome
Establishing a diagnosis of a VHL allowing for targeted cancer surveillance based on associated risks
Identifying genetic variants associated with increased risk for VHL syndrome allowing for predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the VHL gene associated with Von Hippel-Lindau (VHL) syndrome. See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for VHL syndrome.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
VHL Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Germline variants in the VHL gene are associated with Von Hippel-Lindau (VHL) syndrome, a rare autosomal dominant hereditary cancer syndrome.(1,2) VHL syndrome is characterized by an increased risk of developing a variety of cancerous and non-cancerous tumors and lesions, including hemangioblastomas of the brain or spinal cord, retinal angiomas, renal, pancreatic and epididymal cysts, pheochromocytomas, pancreatic neuroendocrine tumors, endolymphatic cell tumors, and clear cell renal cell carcinoma.(3) While considered a highly penetrant condition, approximately 20% of VHL syndrome cases are due to new (de novo) disease-causing variants, which, in some cases, result in disease mosaicism.(4)
Research has suggested certain combinations of VHL tumors cluster in VHL families, and this may be driven by the type of VHL gene variant present in the family.(4) This observation has led to a phenotype-based classification of VHL syndrome. However, these patterns are not entirely specific and should not necessarily be used for diagnostic or therapeutic purposes.
The National Comprehensive Cancer Network provides recommendations regarding the medical management of individuals with VHL syndrome.
Of note, germline variants in the VHL gene are also associated with autosomal recessive hereditary erythrocytosis or polycythemia. Cases of VHL cancer syndrome and erythrocytosis are largely mutually exclusive, although there is some overlap. For information regarding genetic testing for patients suspected to have hereditary erythrocytosis or polycythemia, see HEMP / Hereditary Erythrocytosis Mutations, Whole Blood.
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(5) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. OMIM: 193300. Von Hippel-Lindau Syndrome; VHLS. Johns Hopkins University; 1986. Updated June 4, 2020. Accessed November 9, 2022. Available at https://omim.org/entry/193300
2. Beroud C, Collod-Beroud G, Boileau C, Soussi T, Junien C: UMD-VHL mutations database. The Universal Mutation Database (UMD); Updated 04/06/2021. Accessed July 7, 2021. Available at www.umd.be
3. van Leeuwaarde RS, Ahmad S, Links TP, Giles RH: Von Hippel-Lindau syndrome. In: Adam MP, Everman DB, Mirzaa GM et al, eds. GeneReviews. [Internet]. University of Washington, Seattle; 2000. Updated September 6, 2018. Accessed November 9, 2022. Available at: www.ncbi.nlm.nih.gov/books/NBK1463/
4. Lonser RR, Glenn GM, McClellan W, et al: von Hippel-Lindau disease. Lancet. 2003 Jun 14;361(9374):2059-2067
5. 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 May;17(5):405-424
Day(s) Performed
Varies
Report Available
21 to 28 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
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| VHLZZ | VHL Full Gene Analysis | 82533-1 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614875 | Test Description | 62364-5 |
| 614876 | Specimen | 31208-2 |
| 614877 | Source | 31208-2 |
| 614878 | Result Summary | 50397-9 |
| 614879 | Result | 82939-0 |
| 614880 | Interpretation | 69047-9 |
| 614881 | Resources | 99622-3 |
| 614882 | Additional Information | 48767-8 |
| 614883 | Method | 85069-3 |
| 614884 | Genes Analyzed | 48018-6 |
| 614885 | Disclaimer | 62364-5 |
| 614886 | Released By | 18771-6 |
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