Whole Blood

Lavender top tube 3 mL (EDTA)

Submit specimen to laboratory as soon as possible after collection.

14 days upon receipt at reference laboratory

By report

There are more than 800 different VHL gene mutations (approximately 70%) and deletions or insertions (approximately 30%) that are known to cause the VHL disease. They account for approximately 80% of VHL cases and are distributed throughout the gene, with only the 5' end of exon 1 being largely devoid of mutations. Most mutations are within exons, but approximately 5% occur at splice sites. By contrast, there are very few known "innocent" polymorphisms within this gene. Approximately 20% of VHL cases have no germline mutation. Essentially all of these patients have large germline deletions within the VHL locus, affecting usually at least 2 VHL exons. The presence of a heterozygote disease-causing mutation or a large deletion is therefore diagnostic of VHL disease. DNA sequencing of all 3 VHL exons, and flanking intronic regions, combined with screening for large deletions, has been shown to detect almost 100% of cases.

This test does not reliably detect deletions in formalin-fixed paraffin- embedded tissues.

Please print, complete and submit the Informed Consent Form for DNA Testing from the Mayo Medical Laboratories with the specimen and the
A-1a Miscellaneous Request.

Useful For
Diagnosis of suspected VHL disease

Screening presymptomatic members of VHL families

When this test is ordered, both VHL full gene analysis (amplification) and VHL gene sequencing will be performed. DNA extraction will always be performed at an additional charge.

If VHL gene sequencing does not identify a mutation, then VHL deletion detection will be performed at an additional charge.

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing and Deletion Detection by Multiplex Ligation-Dependent Probe Amplification (MLPA).

83891, 83892 x2, 83894, 83900, 83901 x4, 83909 x6

See also:
Von Hippel-Lindeau Known Mutation, Whole Blood