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von Hippel-Lindau Disease (VHL): VHL (OPT) (Full Gene Sequencing)

Test Number 252559
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CPT

81404
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  • Updated on 02/14/2025

Test Details

Methodology

DNA sequencing

Result Turnaround Time

21 - 35 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

For more information, please view the literature below.

Consent for Genetic Testing (Consentimiento para análisis genético)

Von Hippel-Lindau Syndrome Genetic Testing

Test Includes

This test covers all coding nucleotides of gene VHL, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR.

Use

Confirm a clinical diagnosis of VHL; identify presymptomatic family members

Special Instructions

In cases in which a known mutation can be documented, the physician may prefer to order test 252562.

Limitations

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure.

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

References

Gallou C, Chauveau D, Richard S, et al. Genotype-phenotype correlations in von Hippel-Lindau families with renal lesions, Hum Mutat. 2004; 24(3):215-224.15300849
Joerger M, Koeberle D, Neumann HP, et al. von Hippel-Lindau disease−a rare disease important to recognize. Onkologie. 2005; 28(3):159-163.15772467

Custom Additional Information

von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome characterized by multifocal occurrence of retinal, cerebellar, and/or spinal hemangioblastomas, pheochromocytomas, and renal cell carcinomas. In addition, numerous other visceral neoplasms have been observed. VHL is associated with mutations in the gene VHL, and almost all mutation carriers are symptomatic by 65 years of age. Risk of renal cell carcinoma, the major cause of mortality in VHL, is correlated to the type of VHL mutation, with large deletions or truncations conferring a high risk. Genetic testing can confirm a clinical diagnosis of VHL and detect mutation carriers within affected families.

Specimen Requirements

Specimen

Whole blood; DNA is accepted (Call 800-345-4363 for DNA collection information.)

Volume

2 mL

Container

Lavender-top (EDTA) tube

Collection Instructions

Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.

Reference Range

Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Container broken or leaking; container not labeled or label not legible; improper anticoagulant

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252559 von Hippel-Lindau:VHL (Opt) 41043-1 252150 Routing 41043-1
Order Code252559
Order Code Namevon Hippel-Lindau:VHL (Opt)
Order Loinc41043-1
Result Code252150
Result Code NameRouting
UofM
Result LOINC41043-1