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.
Currently available tests include mutation analysis for somatic overgrowth, McCune Albright and related syndromes. MORE »
Currently available tests include mutation analysis for a variety of arrhythmias and cardiomyopathies. MORE »
Currently available tests include mutation analysis for some genetic forms of diabetes, hyperinsulinism and ER Stress disorders. MORE »
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 »
Currently available testing includes whole exome sequencing and analysis for the detection of genetic variation underlying suspected monogenic disease. MORE »
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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.