Preferred test for confirming Primary Familial or Congenital Polycythemia (PFCP).
Polymerase Chain Reaction/Sequencing
DNA Isolation: Sun-Sat
Lavender (EDTA). Also acceptable: DNA extracted by CLIA certified lab.
Whole Blood: Do not freeze. Transport 5 mL whole blood. (Min: 1 mL)
Extracted DNA: Transport 40 uL DNA with at least 50 ng/uL concentration. (Min: 40 uL) Transport DNA in a tissue transport kit (ARUP Supply #47808) available online through eSupply using ARUP Connect™ or contact ARUP Client Services at (800) 522-2787.
Plasma, serum, FFPE tissue blocks/slides, or frozen tissue, DNA extracted by a non-CLIA lab, 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
Extracted DNA: Ambient: 1 month; Refrigerate: Indefinitely; Frozen: Indefinitely
Refer to report.
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