Step 1: We start by extracting DNA from the Buccal Swab You Provide
This sample contains millions of cells, and each cell contains an identical copy of your genome. In fact, all of the cells in your body (with the only exceptions being the sperm and egg cells, which contain half the amount of DNA found in the other cells) have the same genome, which is unique to you and you alone (unless of course you have an identical twin). Your cheek cells will serve as a very good source of material from which to extract your genetic information.
Step 2: Your DNA is Isolated in the Laboratory and Prepared for Analysis This process consists of several steps and quality control checks are employed along the way to ensure accurate and reliable results. First your DNA is isolated by removing the cheek cells from the swab, then breaking open the cells to release the DNA. The DNA is then purified and concentrated for analysis. Only a small amount (around 250 nanograms – that’s 250 billionths of a gram) is needed forthe SNP analysis. The DNA then undergoes several chemical reactions that involve cutting the DNA with enzymes, attaching chemical linkers to the ends of the fragments, and amplifying the target regions of the DNA containing the SNP sites by a method known as PCR (polymerase chain reaction).
Step 3: Your DNA is Hybridized to a Microarray
The mixture is then fragmented and labeled at the fragment ends using small fluorescent molecules. This enables your DNA to be visualized in an instrument designed to detect the fluorescent signal. The microarray (often called a DNA chip), contains nearly a million small DNA probes that contain precise information on specific DNA sequences – the target SNPs that we wish to analyze. The hybridization procedure determines whether there are matches or mismatches to these specific target probes. The instrumentation and detection software is designed to make the determination as to your specific genotype at each SNP locus on the chip.
Step 4: Data Analysis
Our scientific team analyzes your data. Your genotype is correlated with data published in scientific literature. The results of the analysis are presented to you.