Lynch Syndrome Panel

Turnaround time: 7-24 days

Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit

Shipping Instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.

This panel includes genes that have an established association with Lynch Syndrome and constitutional mismatch repair deficiency syndrome (CMMR-D).

The genes on this panel were specifically selected for their established association with hereditary cancer predisposition. Identification of a pathogenic variant may facilitate increased cancer screening and preventative surgery for early-detection and prevention. Identification of a pathogenic variant also helps identify at-risk family members, who can pursue genetic testing and preventive measures.

The genes on this panel are associated with conditions that have autosomal dominant and/or autosomal recessive inheritance. Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these conditions.

Analyzing a wide range of genes in a single test can provide an efficient, cost-effective method of testing for several hereditary cancer conditions. This approach increases the chance of identifying the underlying diagnosis responsible for an individual’s or family’s cancer predisposition.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.