This test is designed for colorectal cancer patients with a positive family history of hereditary cancers or a suspicion of Lynch syndrome (e.g. MSI-high or mismatch repair deficiency (dMMR)). We offer two iterations of the test: LYNCHNOW® Basic, which screens the Lynch Syndrome genes (MLH1, MSH2, MHS6, PMS2, EPCAM), and LYNCHNOW® Extended, a comprehensive 31-gene panel that identifies alterations in genes associated with Lynch syndrome and other hereditary disorders related to increased risk for colorectal cancer. Reflex options are available. Both versions of the assay utilize next-generation sequencing and detect single- and multi-nucleotide substitutions and small insertions and deletions in coding regions and exon-intron junctions, as well as large genomic rearrangements of the target genes, providing >1500X average coverage at the targeted genomic regions of the tested genes.

The protocol, which is largely accepted throughout the medical field, consists of first screening for DNA mismatch repair (MMR) proteins MLH1, MSH2, MSH6, and PMS2 by way of immunohistochemistry.