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.
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