Hereditary Erythrocytosis Mutations, Whole Blood
Use
The test provides a definitive evaluation for individuals with JAK2-negative erythrocytosis, which is associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit. Hereditary erythrocytosis is characterized by isolated erythrocytosis that has been present since birth and is not associated with the risk of clonal evolution, distinguishing it from polycythemia vera.
Special Instructions
It is a third-order test, recommended for patients diagnosed with erythrocytosis where JAK2 V617F is negative. Polycythemia vera should be excluded before testing, as well as testing to rule out a high oxygen affinity hemoglobin variant. The test is not intended for prenatal diagnosis.
Limitations
The test will not detect somatic or gonadal mosaicism, and some sequence alterations may be clinically benign. A correlation with all relevant clinical information is necessary to provide appropriate patient care. This test does not include serum erythropoietin (EPO) levels. Erythropoietin receptor gene variants are limited to exon 8 heterozygous truncating variants.
New York Approved
Methodology
Sanger
Biomarkers
LOINC Codes
- 105351-1
- 82939-0
- 69047-9
- 18771-6
Result Turnaround Time
10-25 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
0.5 mL
Container
Lavender top (EDTA)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Causes for Rejection
Gross hemolysis, gross lipemia, gross icterus, or moderately to severely clotted specimens will be rejected.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |