Constitutional Sequencing
Overview
The WashU Medicine Clinical Genomics Laboratory offers comprehensive genomic testing for the diagnosis of suspected constitutional or germline conditions. Targeted gene panels and genome-scale sequencing are interpreted by expert faculty to support diagnosis, management, and personalized care.
Panels
Genetics and Genomic Services offers innovative testing for inherited cardiovascular conditions. Testing was developed in partnership with WashU Medicine cardiologists and is designed to identify causative genetic variation in patients with cardiomyopathies, arrhythmias, or aortopathies. Panels include genes that are established causes of monogenic disease. Clients have the option to request expanded analysis of candidate and emerging disease genes. View our menu of cardiac disease tests here.
Genetics and Genomic Services offers innovative testing for neonatal and monogenic diabetes, hyperinsulinism and endoplasmic reticulum (ER) stress disorders, such as Wolfram Syndrome. Testing was developed in collaboration with leading endocrinologists, medical geneticists, and researchers at WashU Medicine – a highly collaborative group available for challenging cases and novel variant assessments. View our menu of diabetes, hyperinsulinism, and ER stress disorders tests here.
Genetics and Genomic Services offers renal disease panels designed in collaboration with WashU Medicine Nephrologists and Renal Subspecialty Pathologists. Results provide physicians with definitive information to make accurate, timely diagnoses. Testing spans routine patient care and clinical translational research, allowing for rapid translation of new gene- and variant-diseases relationships. View our menu of renal disease tests here.
Whole Exome Sequencing
View whole exome sequencing details here.