Test ID: VHLSP
Von Hippel-Lindau (VHL) Gene, Full Gene Analysis
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Diagnosis of suspected von Hippel-Lindau (VHL) disease
Screening presymptomatic members of VHL families
Diagnosis of hereditary erythrocytosis
Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| VHLMS | VHL Full Gene Analysis | No | Yes |
| VHLGQ | VHL Gene Sequencing | No | Yes |
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| VHDD | VHL Deletion Detection | Yes, (order VHLD) | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
If reason for referral is diagnosis of von Hippel-Lindau (VHL) syndrome or it is not known both VHL full gene analysis (amplification) and VHL gene sequencing will be performed.
If VHL gene sequencing does not identify a mutation, then VHL deletion detection will be performed at an additional charge.
If reason for referral is erythrocytosis or polycythemia, order HEMP/61337 Hereditary Erythrocytosis Mutations. If the mutation panel is negative, then VHL full gene analysis will be performed. VHL deletion detection testing will not be routinely performed as large gene deletions in the VHL gene have not been described in the literature in relation to erythrocytosis or polycythemia.
See Erythrocytosis Evaluation Testing Algorithm in Special Instructions.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
VHLSP/89083, VHLMS/28641, VHLGQ/89215: Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing and Deletion Detection by Multiplex Ligation-Dependent Probe Amplification (MLPA)
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Von Hippel Lindau familial cancer syndrome
VHL (von Hippel-Lindau) Gene
Hereditary Erythrocytosis
Chuvash polycythemia
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