MORL Screening Methodology
Enzyme linked immunosorbent assay (ELISA)
- 1ml frozen EDTA plasma
- EDTA plasma samples must be frozen to below -80°C immediately after separation from cells and shipped on dry ice. These samples remain viable for at least six months when stored at -80°C.
- All EDTA plasma samples MUST be processed and frozen down to -80°C immediately after collection
- Labeled with the sample type AND patient’s name, DOB, MRN and sex
- Cryovials should be put in zip lock bags and completely covered in dry ice to keep the sample frozen until it arrives in the lab
- Shipped overnight on at least 5 lbs of dry ice
- Shipping and receiving dock closed on weekends and holidays
- Deliveries accepted Monday - Friday
If samples arrive thawed they will be REJECTED.
Atypical Hemolytic Uremic Syndrome
Complement Factor I (FI; MW: 88 kDa) is an important regulator of complement activity triggered through the classical and alternative pathways. FI limits complement activation by cleaving surface-bound and fluid-phase C3b and C4b, preventing the assembly of the C3 and C5 convertases. Patients with FI mutations may have reduced plasma FI levels and/or function, and are at-risk to develop atypical hemolytic uremic syndrome or C3 glomerulopathy.
Quick Facts
- CPT code: 86160
- Test code: 07FIL
- Turnaround time: 2 weeks
- Cost: $165
Background Knowledge
Complement Factor I (FI; MW: 88 kDa) serves as a critical regulator of complement activity initiated via the classical, lectin and alternative pathways. It plays a pivotal role in restraining complement activation by cleaving surface-bound and fluid-phase C3b and C4b in the presence of one of its co-factors (factor H, soluble complement receptor 1, or CD46), thereby inhibiting the assembly of the C3 and C5 convertases. Individuals with rare pathogenic variants in CFI may have decreased plasma FI levels and/or impaired factor I function, rendering these persons susceptible to conditions such as atypical hemolytic uremic syndrome/complement-mediated TMA, C3 glomerulopathy, age-related macular degeneration, recurrent infections, and other complement-related disorders.
The Clinical Diagnostics Service of the Molecular Otolaryngology & Renal Research Laboratories is a CLIA-approved, Joint Commission-accredited diagnostic laboratory.