SNP mutation detection by real-time PCR from FFPE

TMD has developed SOPs that allow the extraction of viable DNA from FFPE patient tissues through macro-dissection of tumor tissue followed by chemical isolation of DNA. This DNA can be used for the identification of single-nucleotide polymorphisms of onco-genes at a detection level far superior to DNA sequencing.

- Commercially available SNP genotyping assays

TMD has already evaluated and validated two commercially available SNP genotyping assays. The K-ras assay detects the seven most common activating mutations in the K-ras gene, while their BRAF assay detects the V600E activating mutation of the Braf gene. TMD has performed these genetic assays to support clinical trials. Read our press release on the TMD K-ras assay.

- Customized SNP genotyping assays

Using Applied Biosystem’s (ABI) real-time PCR platform that TMD currently possesses coupled with ABI technologies, TMD is able to create and validate custom SNP genotyping assays that would meet the needs of any clinical trial where the identification of an oncogenic SNP from FFPE patient samples is needed. TMD currently has the JAK2 V617F SNP assay in development. Once internally validated, this assay could be used to identify polycythemia vera and other leukemia patients that harbor this JAK2 activating mutation for inclusion into a JAK2-inhibitor clinical trial.

Other custom SNP assays of great interest for TMD to custom develop are for PI3KCA, LKB1 and CAMKKb.