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 Statement B: For laboratory developed tests not using a RUO kit, and for FDA approved, cleared or 510(k) exempt assays with alterations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

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