Hereditary Erythrocytosis Panel, Sequencing
Also known as: ECYT NGS
Use
The Hereditary Erythrocytosis Panel, Sequencing is used to assess for inherited or germline DNA variants associated with familial erythrocytosis. This test is not intended to detect somatic variants. It focuses on identifying pathogenic variants in genes that cause increased red blood cell (RBC) production. Symptoms of hereditary erythrocytosis include elevated hemoglobin and hematocrit levels, headaches, and an increased risk of thrombotic and hemorrhagic events.
Special Instructions
Cultured skin fibroblasts are the preferred specimen type, as testing whole blood in affected patients may not definitively determine germline status. For New York State clients, specimens must be sent to a New York state-approved laboratory. A Hereditary Erythrocytosis Patient History Form and Informed Consent for Genetic Testing are required for New York patients.
Limitations
This test only detects variants within coding regions and the exon-intron boundaries of targeted genes. Deep intronic variants, regulatory region variants, and large deletions/duplications may not be detected. The test is not intended to detect low-level mosaic variants, somatic variants associated with hematologic malignancy, gene conversion events, complex structural rearrangements, or mitochondrial DNA mutations. Variants in VHL exon 2 may not be detected with sufficient confidence.
Methodology
NGS
Biomarkers
LOINC Codes
- 31208-2
- 50398-7
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Cultured Cells
Volume
Not provided
Minimum Volume
Not provided
Container
Sterile, screw-top container filled with tissue transport medium
Collection Instructions
Fill T-25 flasks with culture media and maintain at 80% confluency. Transport cultured skin fibroblasts within 48 hours of shipment due to cell lability.
Storage Instructions
Transport at room temperature, must be received within 48 hours of shipment.
Causes for Rejection
Formalin-fixed tissue, FFPE, grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |