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HelpOrder Code VHLE VHL Gene, Erythrocytosis, Mutation Analysis, Varies
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
Reporting Name
VHL Gene Erythrocytosis MutationsSpecimen Type
VariesSpecimen 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 | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Reject Due To
All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.Reference Values
Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.
An interpretive report will be provided.
Method Description
Bidirectional sequence analysis was performed to test for the presence of sequence variants in the three coding exons and intron/exon boundaries of the VHL gene (GenBank accession number NM_000551; build GRCh37 [hg19]).
Day(s) Performed
Varies
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81404-VHL (von Hippel-Lindau tumor suppressor) (eg, von Hippel-Lindau familial cancer syndrome), full gene sequence