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Test Code VHLZ VHL Gene, Full Gene Analysis, Varies

Useful For

Diagnosis of suspected von Hippel-Lindau (VHL) disease

 

Diagnosis of suspected VHL-related hereditary erythrocytosis

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

VHL Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81404-VHL (von Hippel-Lindau tumor suppressor) (eg, von Hippel-Lindau familial cancer syndrome), full gene sequence

81403-VHL duplication/deletion

LOINC Code Information

Test ID Test Order Name Order LOINC Value
VHLZ VHL Gene, Full Gene Analysis 82533-1

 

Result ID Test Result Name Result LOINC Value
37453 Result Summary 50397-9
37454 Result 82939-0
37455 Interpretation 69047-9
37456 Additional Information 48767-8
37457 Specimen 31208-2
37458 Source 31208-2
37459 Released By 18771-6

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. VHL Gene Testing Patient Information (T641) in Special Instructions

3. If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.