Hereditary Erythrocytosis Focused Gene Panel, Next-Generation Sequencing, Varies
Use
This test provides a focused genetic evaluation for individuals with a history suggestive of hereditary erythrocytosis. It is useful for diagnosing hereditary erythrocytosis or related disorders, facilitating appropriate management based on the gene involved. The test is particularly recommended for individuals with lifelong elevated hemoglobin levels and a family history of similar symptoms, especially when JAK2 V617F is negative.
Special Instructions
Polycythemia vera should be excluded prior to testing, as it is more common than hereditary erythrocytosis. Additionally, alpha and beta chain high-oxygen affinity hemoglobin variants should be excluded before ordering this panel. Further information and algorithmic comparisons are available for different erythrocytosis gene panels.
Limitations
Next-generation sequencing may not detect all genomic variants. False-negatives/positives can occur, and certain genomic regions with high GC content or repetition may not be fully analyzed. Negative results do not rule out a genetic disorder, so further evaluation by alternative methods may be considered if necessary. The assay performance may be limited in detecting larger indels or mosaicism.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103736-5
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 59465-5
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or Yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send in original tube, do not aliquot.
Patient Preparation
Previous bone marrow transplant may interfere with results. Contact laboratory for further instructions if transplant has occurred.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |