Variant Testing Programs

GeneDx classifies sequencing variants in accordance with the 2015 ACMG standards and guidelines for the interpretation of sequence variants [Richards et al. (2015) Genetics in Medicine: Official Journal of the American College Of Medical Genetics: (PMID: 25741868).]. A classification of variant of uncertain significance (VUS) is assigned if there is insufficient information about the variant to lead to a benign, likely benign, pathogenic, or likely pathogenic interpretation using the standards set forth in the guidelines. Because the clinical significance of a VUS is unknown, these results generally cannot be used for risk assessment or medical management purposes.

In some situations, testing family members for the presence or absence of a VUS may provide information that could contribute to the eventual reclassification of a VUS to a clinically meaningful result. The GeneDx Variant Testing Programs (VTP) offer select informative families the opportunity for relatives to undergo testing for the familial VUS. Relatives accepted into a GeneDx Variant Testing Program are offered targeted testing for the familial VUS at no additional charge, provided they submit relevant clinical and/or family history information. GeneDx will make the final determinations for VTP in its sole discretion. Note that classifying a genetic variant as anything other than a VUS requires data from multiple lines of evidence and there is no guarantee that participation in a Variant Testing Program will lead to reclassification of a VUS.

GeneDx has several Variant Testing Programs, each established for different disease states and clinical situations. Note that each Variant Testing Program runs independently and has specific requirements based on the unique nature of the clinical specialty. Please select one of the links to the left for more information about individual GeneDx Variant Testing Programs.