The MORL Clinical Diagnostics Division is a not-for-profit academic laboratory that focuses on non-syndromic hearing loss and complement-mediated renal disease. We provide clinicians caring for patients and families with non-syndromic hearing loss the most accurate and comprehensive genetic testing available today. Establishing a genetic cause for non-syndromic hearing loss saves healthcare dollars by making additional investigational tests, such as thin-cut computed tomography of the temporal bones, unnecessary. Establishing a cause of hearing loss also allows healthcare providers to provide to their patients prognostic information, such as rate of progression of hearing loss, and meaningful genetic counseling.
Our clinical tests for complement-mediated renal diseases focus primarily on atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G), a disease category that includes Dense Deposit Disease (DDD) and C3 glomeulonephritis (C3GN). We offer a wide variety of functional tests of complement activity, including measures of complement proteins and their degradation products, the detection of auto-antibodies to different proteins and/or protein complexes (like factor-H autoantibodies and C3 nephritic factors), and mutation screening of all genes implicated in the thrombotic microangiopathies (TMAs). The goal of this testing battery is to determine, when possible, the genetic cause(s) of aHUS and to define by biomarker profiling the degree and sites of complement dysregulation for the C3Gs. The latter is important in predicting potential patient response to anti-complement therapies, as these therapies are typically directed at specific sites along the complement cascade.
When you order testing through the Clinical Diagnostics Division, your tests are completed by experts in the human genetics of deafness and complement-mediated renal disease. Prior to generating a final report, all results are discussed at a weekly multi-disciplinary meeting attended by clinical experts, research scientists, bioinformaticians, human geneticists and genetic counselors. This step, unique to the MORL, enables us to interpret the results in the context of the provided clinical data and often offer to clinicians, a patient-specific interpretation of the results.
Research scientists, graduate students and post-doctoral students in the Research Division of the MORL tackle novel questions germane to increasing our knowledge base of non-syndromic hearing loss and complement-mediated renal disease, including the development of new treatment options for both hearing loss, aHUS and C3G. Findings of direct clinical relevance are quickly transferred to the Clinical Diagnostics Division to ensure that healthcare providers are always offering to their patients the best possible tests.
If you have questions about how we can assist you as a healthcare provider, a researcher or a patient, please ask.
Richard Smith, MD