The Clinical Genomics Laboratory offers clinically validated next-generation sequencing tests for a variety of somatic and constitutional diseases.

Results from testing can provide physicians with useful information for diagnosis, prognosis and therapy.

For more detailed information on each test, follow the disease category links below or view a list of all available sequencing tests.

Rare Somatic Disease

Currently available tests include mutation analysis for somatic overgrowth, McCune Albright and related syndromes. MORE »

Cardiac Disease

Currently available tests include mutation analysis for a variety of arrhythmias and cardiomyopathies. MORE »

Diabetes, Hyperinsulinism and ER Stress

Currently available tests include mutation analysis for some genetic forms of diabetes, hyperinsulinism and ER Stress disorders. MORE »

Renal Disease

Currently available tests include mutation analysis for a variety of renal disease such as Alport Syndrome, complement defects (including aHUS), cystic diseases and Nephrotic Syndrome. MORE »

Whole Exome Sequencing

Currently available testing includes whole exome sequencing and analysis for the detection of genetic variation underlying suspected monogenic disease. MORE »

Watch our video

Watch our video to learn more about next-generation sequencing and how it is enabling personalized patient care. (Produced in collaboration with the Siteman Cancer Center)

Ancillary Testing

Additional services are available through our affiliated laboratories at Washington University Pathology Services.

These include expert pathologic assessment of specimens including the use of histology, immunohistochemistry (IHC), immunofluorescence (IF) and electron microscopy (EM), as well as cytogenetic analyses such as karyotyping, chromosomal microarray and FISH.