JAK2 Exon 12-13 Mutation Analysis | NeoGenomics Laboratories

Code

MOG-JAKX-01BX

Test

Active-Compendium

81279

Clinical

Oncology,Pathology

Bone Marrow Aspirate: 2 mL in EDTA tube. 
Peripheral Blood: 5 mL in EDTA tube. 
Note: Test is RNA-based. Please select Extract & Hold - RNA If specimen hold service is desired.

Hematologic Diseases

Myeloproliferative neoplasm (MPN)

Wed, 04/30/2025 - 12:00

Mon, 09/29/2025 - 12:00

Molecular

Global

Flag Active

True

Orderable Test Description

This test uses RT-PCR and bi-directional sequencing of JAK2 Exons 12-13 to detect mutations in the pseudokinase domain.
 
Test Customization: Plasma testing available for increased sensitivity. 
Test Recommendation: Add JAK2 V617F testing.

Orderable Turn Around Time

7 Days

Keywords

Meta Description

RT-PCR and bi-directional sequencing to detect non-V617F mutations in exons 12-14, corresponding to the majority of the JAK2 pseudokinase domain. Exon deletion mutations are detectable. Testing is performed on plasma for increased sensitivity whenever possible.

Orderable Biomarkers

JAK2

NY Approved

True

Orderable Biomarkers JSON

{"DNA Sequencing": {"SNVs + Indels": ["JAK2"]}}

Keywords string

jack 2, exon, exon 12 13, jak2 exon 12 13 JAK2 Exon 12-13 Mutation Analysis

Title URL

jak2-exon-12-13-mutation-analysis

Clinical Significance

While the majority of polycythemia vera (PV) patients carry the V617F mutation (~90%), most of those who are negative carry one of over 40 additional JAK2 mutations in exons 12-13. RNA-based testing in this assay allows detection of deletions not detectable by DNA-based tests. Mutation analysis helps differentiate reactive conditions from malignant erythrocytosis.

Storage and transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible. NYS clients please provide date and time of collection. Please select Extract & Hold - RNA if specimen hold service is desired.