CXCR4 Mutation Analysis, Somatic, Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia
Use
This test aids in the prognosis and clinical management of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia by detecting gene mutations within the C-terminal end of the CXCR4 gene. These mutations are often found in association with MYD88 L265P mutations, which are significant determinants of clinical presentation, overall survival, and therapeutic response.
Special Instructions
Not provided.
Limitations
This assay only targets the C-terminal end of the CXCR4 gene and examines c.898-1059, providing 1% analytical sensitivity for c.1013C>G/A mutations using bridged nucleic acids-clamped Sanger sequencing. Routine Sanger sequencing sensitivity for other mutations is 15% to 20%. DNA quality and degradation from certain fixation types may affect results.
New York Approved
Methodology
Sanger
Biomarkers
No genes
Gene
LOINC Codes
- In Process
- 31208-2 - Specimen source
- 59465-5 - Path Rev
- 50398-7 - Narrative diagnostic report-Imp
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Bone Marrow
Volume
2 mL
Minimum Volume
0.5 mL
Container
Lavender top (EDTA); Acceptable: Yellow top (ACD), green top (sodium heparin)
Collection Instructions
Invert several times to mix bone marrow. Send specimen in original tube. Do not aliquot. Label specimen as bone marrow.
Causes for Rejection
B5-fixed tissues, decalcified specimens, methanol acetic acid-fixed pellets, moderately to severely clotted, paraffin shavings
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 10 days |
| Refrigerated | 10 days |
| Frozen | frozen |