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VHLE Gene, Erythrocytosis Mutation Analysis
MessagePart of HEMP (TC 39310) . Must order HEMP and VHLE togher
Test Code
VHLE-MISC
Alias/See Also
Chuvash polycythemia
Hereditary Erythrocytosis
VHL (von Hippel-Lindau) Gene
Hereditary Erythrocytosis
VHL (von Hippel-Lindau) Gene
Preferred Specimen
3 mL EDTA Whole Blood
Must be sent in original tube. Do not share. Do not aliquot.
Must be sent in original tube. Do not share. Do not aliquot.
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Samples not labeled with complete first & last name and date of birth.
Aliquoted or shared specimens
Aliquoted or shared specimens
Methodology
Bidirectional sequence analysis was performed to test for the presence of equence variants in the three coding exons and intron/exon boundaries of the VHL gene (GenBank accession number NM_000551; build GRCh37 [hg19]).
Report Available
14 to 20 days
Reference Range
See report
Clinical Significance
Diagnosis of suspected JAK2-negative VHL-related erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit
Performing Laboratory
Mayo Clinic Laboratories
200 First Street SW
Rochester, MN 55905
Last Updated: December 27, 2023
