EPOR Mutation Detection by Sequencing

2007914
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Additional Technical Information

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.

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.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
08/19/2019
X
N/A

CPT Codes

81479

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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