Test ID: HEMP    
Hereditary Erythrocytosis Mutations

The definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit

This test is a third-order test and should be ordered when the patient meets the following criteria: diagnosis of erythrocytosis, JAK2 V617F is negative, and p50 values are normal.

This evaluation is recommended for patients presenting with lifelong erythrocytosis, usually with a positive family history of similar symptoms. Polycythemia vera should be excluded prior to testing as it is much more common than hereditary erythrocytosis and can be present even in young patients. A JAK2 V617F or JAK2 exon 12 mutation should not be present. Additionally, p50 testing should be performed and a normal result confirmed before ordering this test. For a complete evaluation including p50 testing, hemoglobin electrophoresis testing, and hereditary erythrocytosis mutation analysis in an algorithmic fashion, order REVE / Erythrocytosis Evaluation. Please note that this test (HEMP) is a reflex test for REVE and should not be ordered if REVE is ordered.

See Erythrocytosis Evaluation Testing Algorithm in Special Instructions.

• Informed Consent for Genetic Testing
• Erythrocytosis Patient Information
• Erythrocytosis Evaluation Testing Algorithm

Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis