How does Orivet detect single nucleotide mutations?

Orivet uses a technology known as Single Base Extension (SBE) to detect disease causing mutations. The principle of the technique involves using Polymerase Chain Reaction (PCR) to amplify a specific region of the DNA harbouring the disease causing mutation. Once the target sequence is amplified we can use a synthetic DNA sequence called a primer which is complementary to the target sequence of interest. This primer binds directly adjacent to the position of the mutation and is extended by a single nucleotide. If a mutation is present, it will produce a unique profile in comparison to a normal control sample allowing Orivet to detect mutations with high accuracy.