Use

This test analyzes genes associated with Ehlers-Danlos syndrome (EDS) and other multi-system disorders that may present with features similar to EDS. Ehlers-Danlos syndrome is a group of related conditions affecting the connective tissues that support the bones, blood vessels, skin, and other organs. Symptoms can vary, even among family members, and may include joint hypermobility, stretchy skin, and easy bruising. This test is clinically significant as it enables a more efficient evaluation of multiple potentially relevant genes based on a single indication. The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp, and exon-level deletions and duplications. It is intended for individuals with a clinical diagnosis of EDS, early-onset connective tissue disease, or features of EDS and other related conditions.