Medical Genetics Test Details
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| JAK2 V617F Mutation Analysis | ||
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| 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 |
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| Technical Information | ||
| Methodology: | Real-Time PCR | |
| Gene Name: | JAK2 | |
| Protein Name: | Janus Kinase 2 | |
| Sample & Shipping Information | ||
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| 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 |
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| 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. |
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| 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 |
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| 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. |
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| Turn Around Time: | 7 days | |
| Billing Information | ||
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| List Price: | *For Insurance or Institutional Prices, please call. | |
| CPT Codes: | 81270x1 | |