Preferred test for confirming Primary Familial or Congenital Polycythemia (PFCP).
Polymerase Chain Reaction/Sequencing
DNA Isolation: Sun-Sat
New York DOH Approval Status
Whole Blood: Do not freeze. Transport 5 mL whole blood. (Min: 1 mL)
Plasma, serum, FFPE tissue blocks/slides, or frozen tissue, bone marrow. Specimens collected in anticoagulants other than EDTA or sodium heparin. Clotted or grossly hemolyzed specimens.
Ambient: 24 hours; Refrigerated: 5 days; Frozen: Unacceptable
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2007915||EPOR Specimen Received||31208-2|
|2007916||EPOR Mutation Detection Results||35474-6|
- EPOR Gene, Mutation Analysis