A rapid on-chip single nucleotide polymorphism detection directly from human blood

This paper reports on a silicon/glass based microsystem for the fast detection of single nucleotide polymorphisms (SNPs) directly from on-chip filtered human blood. A crossflow micro-pillar filter is used for purifying lysed blood. It provides an easy solution for on-chip blood sample preparation. After purification, polymerase chain reaction (PCR) was no longer inhibited. The purified DNA solution is then tested for the detection of specific SNPs in a thermally insulated micro-cavity by real-time PCR. As a proof of principle, a successful on-chip detection of two SNPs in human CYP2C9 gene is demonstrated. The SNP profiling using our device took less than 40 minutes from sample to result.