Test ID: HEMP    
Hereditary Erythrocytosis Mutations, Whole Blood

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 variant should not be present. Additionally, p50 testing should be performed and a normal result confirmed before ordering this test.

Additional testing for BPGM full gene sequencing and VHL gene erythrocytosis variant analysis will always be performed and charged separately when this test is ordered.

See Erythrocytosis Evaluation Testing Algorithm in Special Instructions.

This is a third-order test for specific variants. For a complete evaluation including p50 testing, hemoglobin electrophoresis testing, and hereditary erythrocytosis variant analysis in an algorithmic fashion, order REVE / Erythrocytosis Evaluation, Whole Blood.

This test does not provide a serum erythropoietin (EPO) level. If EPO testing is desired, see EPO / Erythropoietin (EPO), Serum.

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions: Send specimen in original tube.

• Informed Consent for Genetic Testing
• Erythrocytosis Patient Information
• Erythrocytosis Evaluation Testing Algorithm
• Informed Consent for Genetic Testing (Spanish)

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Erythrocytosis Patient Information (T694) in Special Instructions

3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen.