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Accurate detection of CXCR4 mutation (S338X: c.1013C>G and c.1013C>A)
Differentiates mutation types in a three-tube multiplex PCR format
Detects mutant alleles at ≥0.5% sensitivity
Internal control and reference target included for reliability
All-inclusive kit with pre-mixed PCR reagents
Ideal for blood, bone marrow, and FFPE samples
The TRUPCR® CXCR4 Mutation Detection Kit enables sensitive detection of the CXCR4 mutation, specifically the S338X variant (c.1013C>G and c.1013C>A), in whole blood, bone marrow, or FFPE tissue. This CXCR4 mutation is a relevant biomarker in Waldenström’s Macroglobulinemia (WM) and other B-cell lymphomas, impacting treatment decisions involving BTK inhibitors such as ibrutinib. The assay uses ARMS PCR for allele-specific amplification and provides results with high sensitivity down to 0.5% allele frequency.
The CXCR4 mutation refers primarily to nonsense or frameshift alterations in the CXCR4 gene, particularly the S338X variant. This change results from point mutations c.1013C>G or c.1013C>A, leading to truncation of the CXCR4 protein. These mutations are found in a subset of B-cell malignancies and influence disease progression and therapy response, especially in Waldenström’s Macroglobulinemia (WM).
CXCR4 encodes a chemokine receptor involved in leukocyte trafficking and tumor cell homing. In WM, about 30–40% of patients with the MYD88 L265P mutation also harbor a concurrent CXCR4 S338X mutation, which leads to a hyperactive, truncated receptor. This hyperactivity promotes tumor proliferation via the ERK1/2 signaling pathway. The presence of CXCR4 mutations correlates with reduced responsiveness to ibrutinib, a BTK inhibitor used in WM treatment, making mutation screening critical for personalized therapy planning.
The TRUPCR® CXCR4 Mutation Detection Kit is a CE-IVD-marked in vitro diagnostic tool that enables the qualitative identification of the S338X mutation in the CXCR4 gene from various human DNA sources, including whole blood, bone marrow, and FFPE tissues. Designed for high sensitivity and specificity, the kit supports differentiation between the two common point mutations (c.1013C>G and c.1013C>A), which together account for over 50% of CXCR4 mutation cases.
This makes the TRUPCR® kit an essential tool in the diagnostic workflow for WM and related B-cell malignancies.
The assay is based on the Amplification-Refractory Mutation System (ARMS) PCR technology. Taq polymerase is used for allele-specific amplification by exploiting its sensitivity to 3’-end mismatches.
The kit includes three separate PCR reactions:
Tube 1: Detects c.1013C>G mutation (FAM)
Tube 2: Detects c.1013C>A mutation (FAM)
Tube 3: Reference CXCR4 region (HEX/VIC) and internal control β-globin (TEXAS RED)
This three-tube configuration enables precise mutation characterization, while the internal control ensures sample integrity and PCR performance.
Identifying CXCR4 S338X mutations is pivotal in classifying Waldenström’s Macroglobulinemia and related lymphomas. The presence of this mutation may reliably predict resistance to BTK inhibitors like ibrutinib, thereby directly influencing therapeutic strategies and patient management.
Given its high prevalence in mutation-positive WM cases and its significant clinical impact, routine screening with a sensitive and reliable molecular tool like the TRUPCR® CXCR4 Mutation Detection Kit is strongly recommended in modern molecular diagnostics laboratories handling hematologic malignancies and lymphoma subtypes.
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