The Best Source for Comprehensive Testing
The MORL is the only clinical lab in the United States associated with a state-of-the-art research center. This unique collaboration allows the center to provide a complete range of complement genetic and complement-serological services, as well as expert clinical consultation and opportunities to participate in research for both providers and patients.
Our Clinical Renal Diagnostics Division provides state-of-the-art next generation sequencing (NGS) of all genes that have been implicated in hereditary thrombotic microangiopathies (TMAs) and C3G:
- Complement-mediated TMAs
- Atypical Hemolytic Uremic Syndrome (aHUS)
- Thrombotic Thrombocytopenic Purpura (TTP)
- C3 Glomerulopathy (C3G)
- C3 Glomerulonephritis (C3GN)
- Dense Deposit Disease (DDD)
The Genetic Renal Panel v8 platform simultaneously screens 13 genes (CFH, CFI, MCP (CD46), CFB, CFHR5, C3, THBD, DGKE, PLG, ADAMTS13, MMACHC, G6PD and WT1) that are implicated in the thrombotic microangiopathies (TMA), which include complement-mediated Hemolytic Uremic Syndrome (aHUS), Upshaw-Schulman syndrome (a hereditary form of Thrombotic Thrombocytopenic Purpura (TTP)), methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and Denys-Drash syndrome (DDS). Many of these genes have also been implicated in C3 Glomerulopathy (C3G), which includes Dense Deposit Disease (DDD) and C3 Glomerulonephritis (C3GN). Additionally, Genetic Renal Panel v8 screens for two single nucleotide variants that could compromise responsiveness to Eculizumab (C5, c.2653C>T, p.Arg885Cys and c.2654G>A, p.Arg885His). Multiplex ligation-dependent probe amplification (MLPA) of the CFH-CFHR5 genomic region is additionally performed to identify large-scale deletions, duplications and complex rearrangements of this highly homologous region.
MLPA is available as a stand-alone test and is recommended for persons with C3G and aHUS.
Complement Serology Testing:
Complement functional testing is integral to a comprehensive care approach to patients with complement-mediated kidney disease. Defining the degree of complement activity in a given patient, as well as documenting where in the complement pathway dysregulation is the greatest, is instrumental in defining underlying disease characteristics. This information in turn is useful for determining next steps in care (i.e. whether treatment may be discontinued or whether escalation of care should be considered). Importantly, data support that functional complement testing may also help define risk for relapse of complement-mediated kidney disease in the renal transplant setting. (Please see: PMID: 24088957; PMID: 25341722; PMID: 25843230; PMID: 30692664)
The MORL offers two large panels, C3G Functional Panel and TMA Functional Panel, to allow healthcare providers to get to get an overview of their patient’s current complement activity. Providers can then follow several abnormal findings with focused micro-panels or follow a single level to monitor clinical treatments.
- C3G Functional Panel provides serologies for C3GN and DDD patients.
- TMA Functional Panel provides serologies for aHUS and TTP patients.
Why Choose the MORL?
MORL provides unparalleled access to clinical expertise. Patients are reviewed in multidisciplinary meetings by global leaders in the field of ultra-rare complement-mediated renal disease. We provide guidance in:
- Test selection
- Clinical interpretation, recommendation for follow-up testing and medical management
- Further studies. As a uniquely translational research to clinical laboratory, we are committed to advancing patient and scientific understanding of these complex diseases. If clinical results do not explain patient’s disease, a patient may receive a research invitation to participate in studies designed to understand their ultra-rare renal disease
The Clinical Diagnostics Service of the Molecular Otolaryngology and Renal Research Laboratories is a Joint Commission-approved CLIA-accredited diagnostic laboratory.