Clinical Diagnostics Service – Kidney Disease

The Clinical Diagnostics Service 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.

1.         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.

2.         Factor I (FI) encodes the protein complement FACTOR I (FI), 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).  

Testing turn-around time is three months. Testing for CFH and FI is performed by bidirectional sequencing.

• Send a purple-top tube with 8-10 cc blood clearly labeled with NAME, DATE OF BIRTH, and AGE.
• For mutation screening of CFH in patients with MPGNII/DDD, a renal biopsy must be consistent with the diagnosis of MPGNII/DDD at the electron microscopic level and by immunofluorescence. To inquire about other CFH-related diseases, please contact one of the persons listed below.
• For other tests of the complement cascade, please contact one of the persons listed below.
• Include the name, e-mail and telephone number of a contact person (physician, genetic counselor).
• Mail overnight delivery at ROOM TEMPERATURE to: Richard Smith, MD, Department of Otolaryngology, University of Iowa, 200 Hawkins Drive - 21151 PFP, Iowa City, IA 52242. Do NOT send samples for Saturday delivery.
• DNA can be sent instead of whole blood.

Note: If the requested clinical information is NOT received, mutation screening will NOT be done. Each sample is evaluated on a case-per-case basis and additional testing might be pursued if appropriate.

Contacts: richard-smith@uiowa.edu, jodi-klein@uiowa.edu, carla-nishimura@uiowa.edu, jessica-sorensen@uiowa.edu.