Code
NGS-JVQX-01BX
Test
Active-Compendium
81270
Clinical
Oncology,Pathology
<p><b>Bone Marrow Aspirate:</b> 1-2 mL in EDTA tube. Sodium Heparin is acceptable.</br>
<b>Peripheral Blood:</b> 3-5 mL in EDTA tube. Sodium Heparin is acceptable.</br>
<b>Note:</b> Test is DNA-based. Please select Extract & Hold - DNA if specimen hold service is desired.</p>
<b>Peripheral Blood:</b> 3-5 mL in EDTA tube. Sodium Heparin is acceptable.</br>
<b>Note:</b> Test is DNA-based. Please select Extract & Hold - DNA if specimen hold service is desired.</p>
Flag Active
True
Orderable Test Description
Next-generation sequencing of JAK2 gene for the detection of the V617F mutation only. This test may be ordered separately or with reflex to JAK2 Exon 12-15, to CALR, or to MPL, or as part of the MPN JAK2 V617F with Sequential Reflex to JAK2 Exon 12-15, CALR, and MPL.</br></br>
<b>Note:</b> This assay replaces the former JAK2 V617F Mutation Analysis - Qualitative performed by PCR. NY samples are still processed by PCR until further notice.</p>
<b>Note:</b> This assay replaces the former JAK2 V617F Mutation Analysis - Qualitative performed by PCR. NY samples are still processed by PCR until further notice.</p>
Orderable Turn Around Time
7 Days
Orderable Biomarkers
NY Approved
False
Orderable Biomarkers JSON
{"DNA Sequencing": {"SNVs + Indels": ["JAK2"]}}
Keywords string
jak2, jak 2, v617f, jak JAK2 V617F Mutation Analysis by NGS
Title URL
jak2-v617f-mutation-analysis-by-ngs
Clinical Significance
JAK2 V617F represents the canonical exon 14 gain-of-function mutation, which has been reported in >95% of patients with polycythemia vera (PV) and approximately 50-60% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). High JAK2 V617F variant allele fraction (>50%) is more commonly observed in PV and is associated with increased risk of myelofibrotic progression in both PV and ET. Targeted therapy directed at the JAK2 V617F mutation is available. (References: PMID: 35767897, 35732831, 36347013, 37357958, 27187622, 26473532, 38269572).
Storage and transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. For fresh samples: refrigerate before shipping and ship same day as drawn whenever possible. Do not freeze.