The Clinical Diagnostics Division of the Molecular Otolaryngology Research Laboratories is a Joint Commission-approved CLIA-accredited diagnostic laboratory that offers mutation screening of several genes that have been implicated in a few rare kidney diseases.

C3 encodes the protein Complement Component 3.  C3 is an acute-phase reactant and is up-regulated during acute inflammation.  Mutations in C3 have been found in persons with atypical Hemolytic Uremic Syndrome (aHUS).

Factor H (CFH or HF1) encodes the protein complement FACTOR H (HF1), a member of the alternative pathway of the complement cascade.   Mutations in CFH have been found in persons with atypical Hemolytic Uremic Syndrome (aHUS) and Dense Deposit Disease (DDD, also known as Membranoproliferative Glomerulonephritis Type II or MPGNII).  Screening is offered to persons with aHUS and biopsy-proven DDD; we also offer screening for some other factor H-related diseases.

Factor I (CFI) encodes the protein complement FACTOR I (CFI), a proteolytic enzyme that destroys the hemolytic and immune-adherence activities of cell-bound, activated C3.  Mutations in FI have been found in persons with atypical Hemolytic Uremic Syndrome (aHUS). 

Membrane Cofactor Protein (MCP) encodes the protein Membrane Cofactor Protein (MCP, CD46), a locally synthesized membrane bound complement regulator.  Mutations in MCP have been found in persons with atypical Hemolytic Uremic Syndrome (aHUS).

Factor B (CFB)  is a zymogen that carries the catalytic site of the complement alternative pathway convertase C3bBb.  The FB gene contains 18 exons and encodes the 764 amino acid protein, Complement Factor B.  There have been two patients reported with gain-of-function mutations in Factor B.

Factor H Related 5 is a member of the Factor H-Related gene family.  It has C-reactive protein and heparin binding properties.  Several single nucleotide polymorphisms in CFHR5 have been associated in persons with biopsy-proven DDD.

Testing turn-around time is approximately three months.