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Test Code JEX12 JAK2, Exon 12 Mutation Analysis

Additional Codes

Epic: LAB14053

Quest: 92474

Specimen Required

Specimen Type: Whole Blood EDTA

Collection Container/Type

Preferred: Lavender top (EDTA)

Acceptable: Green top (Sodium heparin)

Specimen Volume: 5 mL

Collection Instructions: 

  1. Invert several times to mix blood.
  2. Send whole blood specimen in original tube.  Do not aliquot.

Additional Information: Do not reject specimens, send to laboratory for screening.

 

 

Specimen Type: Bone Marrow

Collection Container/Type

Preferred: EDTA (lavender top)

Acceptable: ACD (yellow top)

Specimen Volume: 3 mL

Collection Instructions: 

  1. Invert several times to mix bone marrow.
  2. Send specimen in original tube.

Additional Information:  Do not reject specimens, send to laboratory for screening.

 

 

Specimen Type: Extracted DNA from blood or bone marrow

Collection Container/Type: 1.5- to 2-mL tube with indication of volume and concentration of the DNA.

Specimen Volume: Entire specimen

Collection Instructions: 

  1. Label specimen as extracted DNA.

Additional Information: 

  • Do not reject specimens, send to laboratory for screening.
  • Cell Pellets: Send fixed samples within 7 days of fixation date in a plastic, leak-proof tube/container. Indicate type of fixative used along with patient name, specimen source, date collected, and date harvested/fixed. Cell pellets submitted in Carnoy's or other alcohol-based fixatives are acceptable.

Specimen Minimum Volume

3 mL whole blood

1 mL bone marrow aspirate

Specimen Stability

Whole blood, bone marrow aspirate, fixed cell pellets

Room temperature: 7 days

Refrigerated: 7 days

Frozen: Unacceptable

 

Extracted DNA

Room temperature: 7 days

Refrigerated: 14 days

Frozen: 1 year

Reference Range

See Laboratory Report

Day(s) and Time(s) Performed

Daily

Report Available

5-7 days

Clinical Significance

This DNA-based assay tests leukocytes from blood or bone marrow aspirate for mutations in exon 12 of JAK2, using an advanced DNA sequencing method. These mutations are associated with myeloproliferative neoplasms, particularly polycythemia vera.

Method Name

Polymerase Chain Reaction-based DNA Sequencing

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

CPT Code(s)

81279

Performing Laboratory

Quest Diagnostics Nichols Institute
14225 Newbrook Drive
Chantilly, VA 20153

Aliases

Polycythemia Vera (PV),PMF,PV,Primary Myelofibrosis (PMF),Essential Thrombocythemia (ET),ET,Myeloproliferative neoplasm