Code
NGS-CALX-01BT
Test
Active-Compendium
81219
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
<p>Next-generation sequencing of exon 9 of the CALR (calreticulin) gene for enhanced detection of low levels of insertion/deletion mutations. This test may be ordered separately (if JAK2 analysis, specifically JAK2 V617F, is already performed), as a reflex from JAK2 V617F Mutation Analysis, 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 Calreticulin (CALR) Mutation Analysis performed by fragment analysis/bi-directional sequencing. NY samples are still processed by fragment analysis/bi-directional sequencing until further notice.</p>
<b>Note:</b> This assay replaces the former Calreticulin (CALR) Mutation Analysis performed by fragment analysis/bi-directional sequencing. NY samples are still processed by fragment analysis/bi-directional sequencing until further notice.</p>
Orderable Turn Around Time
7 Days
Keywords
Orderable Biomarkers
NY Approved
False
Orderable Biomarkers JSON
{"DNA Sequencing": {"SNVs + Indels": ["CALR"]}}
Keywords string
CALR, MPN, CALR Mutation Analysis, calreticulin, myeloproliferative neoplasms, polycythemia vera, essential thrombocythemia, primary myelofibrosis, MPN Extended Reflex Panel CALR Mutation Analysis by NGS
Title URL
calr-mutation-analysis-by-ngs
Clinical Significance
Somatic insertions or deletions in exon 9 of CALR gene are detected in 25-35% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). The most common CALR mutations observed include a 52bp deletion (type 1) or 5bp insertion (type 2). PMF patients with mutated CALR have a lower risk of thrombosis and longer overall survival than patients with JAK2 and MPL mutation, however, the association may be limited to those with type 1or type 1-like mutation. (References: PMID: 36347013, 26473532)
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.