VHL Gene, Erythrocytosis, Mutation Analysis, Varies

Casandra

Casandra Test Code MC46485Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID VHLECPT Code 81404

VHL Gene, Erythrocytosis, Mutation Analysis, Varies

Clinical Use

Use

The test is useful for diagnosing suspected JAK2-negative VHL-related erythrocytosis, characterized by lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit. Hereditary erythrocytosis is a condition that results from mutations in genes like VHL, EPOR, PHD2, and others, leading to abnormal regulation of red blood cell production. The assay evaluates the presence of sequence variants in the VHL gene, which is associated with erythrocytosis without the risks associated with polycythemia vera.

Special Instructions

This test is only available as a reflex from the HEMP / Hereditary Erythrocytosis Mutations and is not orderable as a single test. An interpretive report will be provided. Clinical findings, family history, and other laboratory data should be considered for accurate interpretation.

Limitations

This test does not detect somatic or gonadal mosaicism. Sequence variations not covered by this assay or deep intronic variants might not be detected. False-negative or false-positive results could occur due to poor DNA quality or selective allelic drop-out. Results should be interpreted with caution, as some variants may be clinically benign and others might not be detected.

Test Details

New York Approved