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Test Code VHLZ VHL Gene, Full Gene Analysis

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


Specimen Required


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.

Additional Information: Specimen preferred to arrive within 96 hours of collection.

Forms:

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

2. Informed Consent for Genetic Testing (T576) in Special Instructions

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.

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

(http://www.mayomedicallaboratories.com/it-mmfiles/oncology-request-form.pdf)


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly; Varies

Performing Laboratory

Mayo Medical 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 In Process
37455 Interpretation 69047-9
37456 Additional Information 48767-8
37457 Specimen 31208-2
37458 Source 31208-2
37459 Released By No LOINC Needed