Whole Exome Sequencing - Duo

The Whole Exome Sequencing- Duo is intended to identify gene/variant combinations that may aid in the diagnosis of patients with rare genetic disorders. Our exome analysis evaluates almost all protein-coding genes in the human genome (>18,000 genes in a single assay) and detects single nucleotide variants, small insertions and deletions, and intragenic copy number variants. Artificial intelligence (AI)-powered software weighs clinical and genetic information to identify the variants most relevant to each patient’s case. Routine case-level reanalysis is included in the cost of the test and performed every 6-12 months for a minimum of 2 years. In the course of carrying out a rigorous analysis of the exome sequence, this test may occasionally incidentally discover genetic changes that are of medical importance but are not directly relevant to the primary reason for the exome testing. If we identify an incidental finding, we will report it in the primary exome report with an appropriate explanation. Enigma Genomics will not report any incidental findings associated with adult-onset neurodegenerative disorders for which there are no interventions available. In keeping with medical practice best standards, incidental findings are considered to fall within Enigma Genomics' duty to notify policy, and there is no option to opt out, even if the finding happens to fall within one of the ACMG secondary findings genes.