MLH1 and Lynch syndrome: For example, a patient with a personal and family history of colorectal cancer with tumor studies indicative of Lynch syndrome (microsatellite instability and loss of MLH1 by immunohistochemistry) was predicted by our analysis to have deletion of exons 2 and 3 of MLH1. Lynch syndrome was the leading clinical diagnosis, and the two exon deletion was confirmed clinically with MLPA (Multiplex Ligation-dependent Probe Amplification).