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

CPT: 81404
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Test Details

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.


Confirm a clinical diagnosis of VHL; identify presymptomatic family members


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.


DNA sequencing

Reference Interval

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

Additional Information

von Hippel-Lindau disease (VHL) 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


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


2 mL


Lavender-top (EDTA) tube


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

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

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

Clinical Information

Special Instructions

In cases in which a known mutation can be documented, the physician may prefer to order test 252747.


Gallou C, Chauveau D, Richard S, et al. Genotype-phenotype correlations in von Hippel-Lindau families with renal lesions. Hum Mutat. 2004 Sep; 24(3):215-224. 15300849
Joerger M, Koeberle D, Neumann HP, Gillessen S. von Hippel-Lindau disease−a rare disease important to recognize. Onkologie. 2005 Mar; 28(3):159-163. 15772467


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252546 von-Hippel-Lindau:VHL, (NEP) 41043-1 252154 Routing 41043-1

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