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Hereditary Erythrocytosis Mutations, Whole Blood
Test Code39310
CPT Codes
81479
Includes
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
Preferred Specimen
3 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
0.5 mL
Instructions
New York Clients-Informed consent is required
Transport Temperature
Refrigerated (cold packs)
Specimen Stability
Room temperature: 14 days
Refrigerated: 30 days
Frozen: Unacceptable
Refrigerated: 30 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Gross hemolysis • Gross lipemia • Gross icterus • Moderately to severely clotted
Methodology
Polymerase Chain Reaction • Sanger Sequencing
Setup Schedule
Monday-Friday Morning
Report available: 10 Days
Report available: 10 Days
Reference Range
See Laboratory Report
Clinical Significance
Definitive evaluation of an individual with JAK2-negative
erythrocytosis associated with lifelong sustained
increased RBC mass, elevated RBC count, hemoglobin, or
hematocrit.
erythrocytosis associated with lifelong sustained
increased RBC mass, elevated RBC count, hemoglobin, or
hematocrit.