CXCR4 Mutation Analysis
Also known as: CXCR4
Use
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.
Special Instructions
Not provided.
Limitations
Not provided.
New York Approved
Methodology
Sanger
Biomarkers
CXCR4
Gene
Result Turnaround Time
10 days
Related Documents
For more information, please review the documents below
Specimen
Bone Marrow
Volume
2 mL
Minimum Volume
Not provided
Container
EDTA tube
Storage Instructions
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.