Whole Exome Family Duo

Laboratory assay overview

Whole Exome Family Duo includes high-quality whole exome sequence analysis of an index patient and family member, coupled with whole exome deletion/duplication analysis. Whole Exome Duo is an essential tool for detecting de novo mutations and copy number variants, which underlie many of the early-onset diseases. Whole Exome Sequencing (WES) is a robust and one of the most comprehensive genetic tests for identifying the disease-causing changes in a large variety of genetic disorders. In WES, protein-coding regions of all genes (approximately 20,000) of the human genome, known as the exome, are sequenced using next-generation sequencing technologies. While the exome constitutes only approximately 1% of the whole genome, 85% of all disease-causing mutations are located there. Indeed, WES has not only been successful in the identification of new disease genes but is also a powerful method in clinical settings to identify the molecular basis of genetic disorders across various medical specialties. The diagnostic yield of WES is higher than some traditional gene diagnostic methods. A definite diagnosis is typically obtained in 20% to 60% of cases, depending on the medical specialty, with severe, early-onset disorders having the highest diagnostic rates (The Deciphering Developmental Disorders Study 2014 Nature; Farwell et al. 2015 Genetics in Medicine; Stark et al. 2016 Genetics in Medicine). WES is most suitable for individuals with: 1. A complex, unspecific genetic disorder with multiple differential diagnoses 2. A genetically heterogeneous disorder 3. A suspected genetic disorder where a specific genetic test is not available 4. Unsuccessful previous genetic testing