Use

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 48 genes associated with Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, heritable thoracic aortic disease, and related conditions with overlapping clinical presentation. It assists in the diagnosis, prognosis, clinical management, familial screening, and genetic counseling for these connective tissue disorders and hereditary aortopathies. By identifying disease-causing variants, this panel supports the differentiation of genetic etiologies of complex or ambiguous clinical presentations and aids in treatment decisions.