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JAK2V617F Mutation Analysis

Test Information

Test Name: JAK2V617F Mutation Analysis

Performing Lab: Molecular Diagnostic

Synonyms: JAK2 by PCR

Order Includes: JAK2 by PCR

Turnaround Time: 10 days

Additional Interpretation: The JAK2 V617F mutation analysis is useful in distinguishing reactive conditions from BCR-ABL negative chronic myeloproliferative disorders such as polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis. The assay findings should be interpreted with clinical information and bone marrow biopsy findings. The test is reported as positive or negative for the JAK2 V617F mutation. The utility of heterozygous versus homozygous mutations or quantitation is not well defined at this point.

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Methodology: After DNA extraction from whole peripheral blood, the short fragment spanning the mutation site c.1849 G>T (GeneBank accession no. NM_004972) is amplified using a real time PCR apparatus and optimized primers and probes mix (JAK2 MutaScreen TM Kit, Ipsogen). Genotyping was performed using allelic discrimination after amplification. A negative type allele has a ratio equal to or greater than the positive reference sample. This assay can detect one JAK2 V617F copy per 40 alleles. Absence of the JAK2 V617F mutation does not rule out the diagnosis of a myeloproliferative disorder. Clinical correlation and other laboratory tests are recommended for appropriate interpretation of this assay.

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CPT Code: 81270



Result Information

No Information Available



Specimen & Collection Information

Specimen Name: Whole Blood or Bone Marrow

Container Type: Lavender Top (EDTA)

Special Handling: Refrigerate

Specimen Volume: Vacutainer K2 EDTA (lavender top)

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Specimen Transportation & Storage Information

Storage and Transport:Blood:
Deliver to the lab immediately. Remote Locations : Blood:
Do not spin. Store refrigerated at 2°C to 8°C.