QClamp® C-KIT Codon Specific Mutation Test for Codon 817, DiaCarta

DiaCarta's QClamp® C-KIT Codon Specific Mutation Detection kit is a polymerase chain reaction (PCR)-based assay that uses XNA probes to suppress amplification of WT-DNA, selectively amplifying mutant DNAs

The testing procedure involves four (4) simple steps: 1. Isolation of DNA from tumor biopsies, paraffin-embedded sections (FFPE), fresh frozen tumors, or tumor cell lines. 2. Amplification of mutant all DNAs at specified codons within the KRAS gene. 3. Detection of amplification signal using a real-time PCR instrument capable of SYBR green detection 4. Documentation and interpretation of results.

This test can be completed in approximately 2-3 hours from DNA to test result. Limit of Detection <0.1% RUO, <1% CE-IVD. Includes WT and Positive Controls. 2 reactions per sample. Minimal sample input (5-10ng per reaction)

KIT is a receptor tyrosine kinase (RTK) that normally plays a critical role in hematopoiesis. Mutation of the KIT gene leads to aberrant growth signaling in the cell harboring the mutant protein. The most common mutation of KIT in these disorders is a substitution of the aspartic acid residue in position 816 with a valine (D816V), leading to constitutive activation of the receptor.

Activating c-KIT mutations have been found in human germ cell tumors/cancers (GCC), and 10–40% of testicular seminomas harbor activating mutations in exons 11 and 17. About two thirds are missense point mutations at codon 816 which are also found in almost all mast cell tumors. Activation of c-KIT by mutation of the amino acid at position 816 (D816X) is associated with systemic mastocytosis and a variety of cancers including acute myeloid leukemia, gastrointestinal stromal tumors and testicular carcinomas.

The assay identifies the presence of all mutations in and near C-KIT Codon 817. All mutations at a particular codon are detected, but the exact nature of the mutation is not specified.

Certifications: USA: RUO, Europe RUO