Test ID: VHLKP
Von Hippel-Lindau (VHL) Gene, Known Mutation
Specimen Type 
Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions: Send specimen in original tube.
Additional Information:
1. This test can only be performed if a mutation has previously been identified in a family member of this individual. Documentation of the specific familial mutations must be provided with the specimen in order to perform this test. If the familial mutation is a large or exonic deletion, order VHLD/89211 Von Hippel-Lindau (VHL) Deletion Detection. If a familial mutation has not been previously identified, order VHLSP/89083 Von Hippel-Lindau (VHL) Gene, Full Gene Analysis.
2. Transfusions will interfere with testing for up to 4 to 6 weeks. DNA obtained from white cells may not provide useful information for patients who received a recent transfusion of blood that was not leukocyte-reduced. Wait 4 to 6 weeks until transfused cells have left the patient's circulation before drawing the patient's blood specimen for genotype testing.
Forms:
1. VHL Gene Testing Patient Information Sheet (Supply T641) in Special Instructions is required.
2. Informed Consent for Genetic Testing (Supply T576) in Special Instructions is required.
3. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | Mild OK; Gross OK |
| Lipemia | Mild OK; Gross OK |
| Icterus | Mild OK; Gross OK |
| Other | NA |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood EDTA | Refrigerated (preferred) | |
| Ambient | ||
| Frozen | ||
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