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JAK2, Exon 12 Mutation Analysis

Test Summary

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.

Aliases

  • N/A

Specimen Collection

Special Instructions

N/A

Preferred Specimen

4 mL whole blood or 3 mL bone marrow aspirate collected in an EDTA (lavender-top) tube

Minimum Volume

3 mL whole blood • 1 mL bone marrow aspirate

Instructions

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.

Patient Preparation

N/A

Storage

N/A

Transport Temperature

Room temperature

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: 1

Limitations

N/A

Other Acceptable Specimens

Whole blood or bone marrow aspirate collected in a sodium heparin (green-top) tube • Fixed cell pellet collected in a plastic leak-proof container • Extracted DNA from CLIA-certified laboratory collected in a sterile leak-proof container

Unacceptable Specimens

N/A

Order Code

JAK2EX

EPIC (Premier) Code

LAB6123

Includes

N/A

CPT Code

  • 81279

Billing Code

  • 700000

CPT Statement

Methodology

Polymerase Chain Reaction-based DNA Sequencing

FDA Status

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. The FDA has determined that such clearance or approval is not necessary. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Physician Attestation of Informed Consent

N/A

Testing Laboratory

Quest Diagnostics Nichols Institute
14225 Newbrook Drive
Chantilly VA, 20153

Reference Range

See Laboratory Report

Setup Schedule / Expected Turnaround Time

Daily; Report available: 5 - 7 days

Specimen Collection

Special Instructions

N/A

Preferred Specimen

4 mL whole blood or 3 mL bone marrow aspirate collected in an EDTA (lavender-top) tube

Minimum Volume

3 mL whole blood • 1 mL bone marrow aspirate

Instructions

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.

Patient Preparation

N/A

Storage

N/A

Transport Temperature

Room temperature

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: 1

Limitations

N/A

Other Acceptable Specimens

Whole blood or bone marrow aspirate collected in a sodium heparin (green-top) tube • Fixed cell pellet collected in a plastic leak-proof container • Extracted DNA from CLIA-certified laboratory collected in a sterile leak-proof container

Unacceptable Specimens

N/A

Billing

CPT Code

  • 81279

Billing Code

  • 700000

CPT Statement

Result Information

Methodology

Polymerase Chain Reaction-based DNA Sequencing

Testing Laboratory

N/A

Reference Range

See Laboratory Report

Setup Schedule / Expected Turnaround Time

Daily; Report available: 5 - 7 days