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Houston, Texas

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Medical Genetics Test Details

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MPL Exon 10 Mutation Analysis
Test Information: Indication for Study:

Identification of MPL Exon 10 Mutation.
Test Details
Test Code: 9020
Test Includes: Sequence Analysis of Exon 10 of the MPL gene

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 MPL mutation is the tryptophan 515 at motif RWQFP in exon 10, which occur in 3-4% of ET, 4-8% of IMF, and none in PV. The mutation results in constitutive activation of downstream JAK2/STAT signaling transduction. Identification of these mutations may have both diagnostic and therapeutic significance.

Technical Limitations:

This test is designed to detect mutations in exon 10 of the MPL gene only. 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:
- Prevalence of MPL W515L/K mutations in Taiwanese patients with Philadelphia-negative chronic myeloproliferative neoplasms.

Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions of exon 10 of the MPL gene.
Gene Name: MPL
Protein Name: Myeloproliferative Leukemia Virus Oncogene
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 - 10 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81403x1


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