Ordering Recommendation

Preferred test for confirming Primary Familial or Congenital Polycythemia (PFCP).

Mnemonic
EPOR
Methodology

Polymerase Chain Reaction/Sequencing

Performed

DNA Isolation: Sun-Sat
Assay: Varies

Reported

8-14 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA). Also acceptable: DNA extracted by CLIA certified lab.

Specimen Preparation

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.

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

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.

Remarks
Stability

Ambient: 24 hours; Refrigerated: 5 days; Frozen: Unacceptable
Extracted DNA: Ambient: 1 month; Refrigerate: Indefinitely; Frozen: Indefinitely

Reference Interval
Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81479

Components
Component Test Code* Component Chart Name LOINC
2007915 EPOR Specimen Received 31208-2
2007916 EPOR Mutation Detection Results 35474-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • EPOR Gene, Mutation Analysis
EPOR Mutation Detection by Sequencing