Background:
The mutation of p.C481S has been characterized as a known contributor to the resistance of the drug ibrutinib in patients being treated for CLL.
Methodology:
The interrogation of the C481 codon is performed in the following process:
- DNA extraction and purification
- PCR amplification of BTK exon 14
- Screening for the mutation by bidirectional sequencing
Specimen Requirements:
Preferred specimens:
- Blood or Bone Marrow: 5-10 mL purple (EDTA) or yellow (ADC) tube (unspun)
Acceptable specimens:
- Paraffin block or 10 unstained sections of tumor or bone marrow
- DNA: 150ng at a minimum of 50-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES. Please include detailed clinical information.
Test Performed (Days):
Weekly
Turn Around Time:
7-10 days
Shipment Sensitivity Requirements:
- Package and ship specimen to remain cold, but not frozen.
- Ship via overnight express, using the FedEx priority overnight label provided.
- Contact Client Services at (855) 535-1522 for shipping kits and instructions.
References:
- Woyach J et al. Resistance mechanisms for the Bruton’s tyrosine kinase inhibitor Ibrutinib. N Engl J Med 2014;370:2286-94.
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Chiron et al. Cell cycle reprogamming for PI3K inhibition overrides a relapse-specific C481S BTK mutation revealed by longitudinal functional genomics in mantle cell lymphoma. Cancer Discov; 4(9); 00-00.2014 AACR.
Additional Info: