It has been estimated that over 80% of Rare Diseases are genetic in origin. This is why Whole Genome Sequencing offers a promising tool for rare-disease management. Comprehensive analysis of variations, including simple nucleotide variants (SNVs), copy-number variations (CNVs), and structural variations (SVs), are implemented using the WGS data. As a result, disease-causing variants are identified in most of the cases, increasing the diagnostic rate.
We strive to end years-long diagnostic odysseys. These odysseys average 7 years in length and include multiple inconclusive tests, surgeries and procedures, many of which do not result in answers or treatment options for these children and their families.