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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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JAK2 V617F Mutation Analysis
Test Information: Identification of JAK2 V617F mutation.
Test Details
Test Code: 9010
Test Includes: This test detects the JAK2 V617F mutation using Real Time PCR technology.

Special Notes: Indication for Study:

Myeloproliferative neoplasias (MPN or MPD) include chronic myeloid leukemia (CML), polycythemia Vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (IMF). Except for CML, the rest of disorders are BCR-ABL fusion negative and may carry somatic mutations on Janus kinase2 (JAK2) and/or MPL. The most common mutation in MPNs is the point mutation at V617 in the pseudokinase domain of JAK2 gene, which happens in 95% of PV, 35% to 70% of ET, and 50% of IMF patients. The mutation results in constitutive activation of the JAK2 tyrosine kinase. Identification of these mutations may have both diagnostic and therapeutic significance.

Technical Limitations:

This test is designed to detect the p.V617F mutation only. The limit of the test is approximately 10 mutated cells in 100 total cells (10%).

Results of this test must always be interpreted in the context of relevant clinical and pathological data, and should not be used alone for a diagnosis of malignancy.

Useful Publications:
- Mutation Profile of JAK2 Transcripts in Patients with Chronic Myeloproliferative Neoplasias
Technical Information
Methodology: Real-Time PCR
Gene Name: JAK2
Protein Name: Janus Kinase 2
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: Bone Marrow
Requirements: 2-5 mL Bone Marrow (Min: 1 mL) in a EDTA (purple-top) tube(s).

Transport Temperature: Ship at ambient temperature (18-25C/64-77F).

Unacceptable Conditions: Frozen specimens.

Stability: Ambient: 48 hours; Frozen: Unacceptable

Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.

Specimen Type: Leukemic Blood
Requirements: 5-10 mL Leukemic Blood (Min: 1 mL) in a EDTA (purple-top) tube(s).

Transport Temperature: Ship at ambient temperature (18-25C/64-77F).

Unacceptable Conditions: Frozen specimens.

Stability: Ambient: 48 hours; Frozen: Unacceptable

Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.


Turn Around Time: 7 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81270x1


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