Molecular Interpretation
Use
Hereditary erythrocytosis is a condition characterized by increased red blood cell (RBC) mass, which can be primary, due to intrinsic bone marrow defects, or secondary, related to increased serum erythropoietin levels. Secondary causes include chronic diseases like lung disease and heart conditions, and environmental factors like high-altitude living. When these common causes are ruled out, a heritable cause involving hemoglobin or erythrocyte regulatory mechanisms might be considered. Hereditary erythrocytosis can be inherited in an autosomal dominant or recessive manner and involves variations in specific genes including those related to hemoglobin, oxygen sensing, and erythropoietin pathways.
Special Instructions
This test is not orderable on its own and must be ordered as part of the Hereditary Erythrocytosis Mutations, Whole Blood (HEMP) profile. Molecular interpretation will be provided when the HEMP is ordered. The test requires whole blood specimen and is performed at Mayo Clinic Laboratories, Rochester Main Campus.
Limitations
The interpretation of hereditary erythrocytosis does not include the genes HBA1, HBA2, and HBB. A detailed analysis of the variations affecting HIF-alpha, PHD2, and VHL proteins is essential for clinical interpretation. Truncating variants in the EPOR gene, such as those in exon 8, may also induce erythrocytosis. The prevalence of hereditary erythrocytosis-causing variants is not well-documented, and results should be interpreted in the context of clinical findings.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 69047-9
- 69047-9
- 18771-6
Result Turnaround Time
10-25 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |