Code
MOG-CXCX-01BZ
Test
Active-Compendium
81479
Clinical
Oncology,Pathology
<p><b>Bone Marrow Aspirate:</b> 2 mL in EDTA tube.<br>
<b>Peripheral Blood:</b> 5 mL in EDTA tube.<br>
<b>H&E slide (required) plus paraffin block.</b><br>
<b>Cut Slides:</b> H&E slide (required) plus 5-10 unstained slides cut at 5+ microns.<br>
<b>Note on FFPE:</b> Paraffin block is preferred. Do not use zinc fixatives. If submitting slides, please use positively-charged slides and 10% NBF fixative. Block and slide identifiers should be clearly written and match exactly with the specimen ID and specimen labeling as noted on the requisition.<br>
<b>Note:</b> Test is DNA-based. Please select Extract & Hold - DNA if specimen hold service is desired.</p>
<b>Peripheral Blood:</b> 5 mL in EDTA tube.<br>
<b>H&E slide (required) plus paraffin block.</b><br>
<b>Cut Slides:</b> H&E slide (required) plus 5-10 unstained slides cut at 5+ microns.<br>
<b>Note on FFPE:</b> Paraffin block is preferred. Do not use zinc fixatives. If submitting slides, please use positively-charged slides and 10% NBF fixative. Block and slide identifiers should be clearly written and match exactly with the specimen ID and specimen labeling as noted on the requisition.<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
This test uses bi-directional sequencing to detect mutations encoding the C-terminus of CXCR4, including the C1013G mutation, for CLL prognostic profiling.
Orderable Turn Around Time
10 Days
Orderable Biomarkers
NY Approved
True
Orderable Biomarkers JSON
{"DNA Sequencing": {"SNVs + Indels": ["CXCR4"]}}
Keywords string
CXCR4 , 4, Mutation CXCR4 Mutation Analysis
Title URL
cxcr4-mutation-analysis
Clinical Significance
The C-X-C chemokine receptor type 4 (CXCR4) plays a crucial role in modulating cell trafficking in hematopoietic stem cells and clonal B-cells. CXCR4 mutations are found in 28% of patients with lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia, WM) and are either absent or present in only 7% of patients with other B-cell lymphomas.
It is a driver mutation of tumor progression and modulator of drug resistance in lymphoplasmacytic lymphoma. Germline mutations in the C-terminus of CXCR4 have also been reported in warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome, which is a rare, autosomal dominant, primary immunodeficiency disorder.
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. Please select extract & hold - DNA if specimen hold service is desired. NYS clients please provide date and time of collection.