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Test Code VHLE VHL Gene, Erythrocytosis Mutation Analysis

Useful For

Diagnosis of suspected JAK2-negative VHL-related erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name

VHL Gene Erythrocytosis Mutations

Specimen Type

Varies


Specimen Required


Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.

 

This test is only available as a reflex from the HEMP / Hereditary Erythrocytosis Mutations. VHLE is not a single orderable test.


Specimen Minimum Volume

Blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.

 

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
VHLE VHL Gene Erythrocytosis Mutations 82528-1

 

Result ID Test Result Name Result LOINC Value
37840 Result Summary 50397-9
37841 Result 82528-1
37842 Interpretation 69047-9
37886 Known Mut Reason for Referral 42349-1
37843 Additional Information 48767-8
37844 Specimen 31208-2
37845 Source 31208-2
37846 Released By No LOINC Needed