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Houston, Texas

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Medical Genetics Test Details

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MPD Panel
Test Information: Indication for Study:

Identification of JAK2 V617F, JAK2 exon 12 and MPL Exon 10 Mutations.
Test Details
Test Code: 9050
Special Notes: 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. Other less common mutations such as deletion/insertion/duplication/point mutations in exon 12 of JAK2 and point mutation in exon 10 of MPL gene have been lately reported. These mutations result 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 JAK2 V617F mutation and mutations in exon 12 of JAK2 gene and exon 10 of MPL gene. The limit of the test is approximately 20 mutated cells in 100 total cells (20%).

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:
- Clonal Heterogeneity in Polycythemia Vera Patients with JAK2 Exon12 and JAK2-V617F Mutations.
- Mutation Profile of JAK2 Transcripts in Patients with Chronic Myeloproliferative Neoplasias
- Prevalence of MPL W515L/K mutations in Taiwanese patients with Philadelphia-negative chronic myeloproliferative neoplasms.
Technical Information
Methodology: Pyrosequencing® for JAK2 V617F mutation and sequence analysis of exon 12 of the JAK2 gene and exon 10 of the MPL gene.
Gene Name: JAK2, MPL
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 (18-25°C/64-77°F).

Unacceptable Conditions: Frozen specimens.

Stability: Ambient: 48 hours; Frozen: Unacceptable

Shipping Conditions: Ship at ambient temperature (18-25°C/64-77°F) 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 (18-25°C/64-77°F).

Unacceptable Conditions: Frozen specimens.

Stability: Ambient: 48 hours; Frozen: Unacceptable

Shipping Conditions: Ship at ambient temperature (18-25°C/64-77°F) 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, 81479x1


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