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von Hippel Lindau disease
Clinical Genetic Test
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offered by
Genetic Pathology
View lab's test page
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GTR Test Accession: Help GTR000053363.4
INHERITED DISEASECANCERENDOCRINOLOGY ... View more
Last updated in GTR: 2019-02-24
View version history
Last annual review date for the lab: 2021-02-19 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (3): Help
Von Hippel-Lindau syndrome; Clear cell carcinoma of kidney; Pheochromocytoma
Genes (1): Help
VHL (3p25.3)
Methods (4): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Patients with clinical VHL syndrome, personal and/or family history of …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Genetic Pathology
View lab's website
View lab's test page
Test short name: Help
VHL
Specimen Source: Help
  • Amniotic fluid
  • Buccal swab
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Overseas requestors to contact laboratory for Australian quarantine information.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 4
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Detection of homozygosity
Microsatellite analysis
Methylation analysis
Methylation specific MLPA
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NextSeq
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19(6):617-23. doi:10.1038/ejhg.2010.175. Epub 2011 Mar 09. PMID: 21386872.

Target population: Help
Patients with clinical VHL syndrome, personal and/or family history of phaeochromocytoma, haemangioblastoma, renal cell carcinoma or exra-adrenal paraganglioma
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Literature search and in silico analyses.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. A supplimentary report will be issued
Research:
Is research allowed on the sample after clinical testing is complete? Help
None
Recommended fields not provided:
Clinical validity, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Next Generation Sequencing of all coding exons, PCR amplification and Sanger sequencing of promoter region, MLPA, LOH and methylation analysis of tumour samples.
Test Platform:
None/not applicable
Test Confirmation: Help
Results are confirmed by testing a second, independently collected specimen.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
90-100% of clinical VHL disease
View citations (2)
  • van Leeuwaarde RS, Ahmad S, van Nesselrooij B, Zandee W, Giles RH. Von Hippel-Lindau Syndrome. 2000 May 17 [updated 2024 Feb 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301636.
  • https://www.ncbi.nlm.nih.gov/books/NBK1463
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
PolyPhen, AlignGVGD, SIFT, NetGene, Fruitfly, Snp3D

Laboratory's policy on reporting novel variations Help
Requesting clincian by report.
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.