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Von Hippel-Lindeau Syndrome (VHL)
Clinical Genetic Test
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offered by
Medical Genomics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000551655.6
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2023-06-07
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Last annual review date for the lab: 2023-06-07 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Recurrence; ...
Conditions (1): Help
Von Hippel-Lindau syndrome
Genes (1): Help
VHL (3p25.3)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Confirmation of clinical diagnosis of VHL in patients presenting with …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Medical Genomics Laboratory
View lab's website
View lab's test page
Test short name: Help
VHL1
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Bryce Brown, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
ebfincher@uabmc.edu
205-934-5525
Brandon Shaw, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
brandonshaw@uabmc.edu
205-934-1520
Contact Policy: Help
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Additional information regarding the specific details needed for test submission can be found on our website
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Comprehensive VHL mutation analysis starts with extraction of DNA from the blood sample of the patient, followed by amplification of three exon fragments. These PCR fragments encompassing the entire VHL coding region are hereafter used as the template for direct bi-directional cycle sequencing (Tier 1). MLPA analysis (Tier 2) is … View more
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code
Conditions Help
Total conditions: 1
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: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Recurrence; Screening
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Confirmation of clinical diagnosis of VHL in patients presenting with only one of the characteristic manifestations.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
In order to further investigate a VUS, the laboratory will: 1. Review software predictions (SIFT, PolyPhen, etc) 2. Review internal database to compare against alterations seen in alleles previously tested in laboratory 3. Offer free of charge family studies for any individuals that would provide useful information for interpretation

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Further studies may be performed for other disorders that may also help to explain the patient's phenotype.
Recommended fields not provided:
Clinical validity, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Comprehensive VHL mutation analysis starts with extraction of DNA from the blood sample of the patient, followed by amplification of three exon fragments. These PCR fragments encompassing the entire VHL coding region are hereafter used as the template for direct bi-directional cycle sequencing (Tier 1). MLPA analysis (Tier 2) is … View more
Test Confirmation: Help
Mutations found are confirmed on a second extraction from the original sample.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The official name for the VHL gene is von Hippel-Lindau tumor suppressor, which resides on chromosome 3p25.3. VHL gene contains 3 exons and encodes a ~ 4.5 kb mRNA. Loss of function mutations in VHL are the only known cause of VHL, and germline VHL mutations can be detected in … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment

PT Provider: Help
Intra-laboratory with samples reanalyzed blindly
VUS:
Software used to interpret novel variations Help
Alamut, Google search, PolyPhen, SIFT, evolutionary consevation, grantham score, splicing prediction software, disorder specific databases as necessary

Laboratory's policy on reporting novel variations Help
The laboratory will issue an interim report summarizing what is currently known about the variant and familial studies will be offered. Upon completion of the familial studies, a final report will be provided with a conclusion of what is suspected for the alteration.
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, 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.