Download Clinical Diagnostics Service – Kidney Disease

Clinical Diagnostics Service – Kidney Disease
The Clinical Diagnostics Service of the MORL is a Joint Commission-approved CLIAaccredited diagnostic laboratory that offers mutation screening of several genes.
The Factor H gene (CFH) encodes the protein complement FACTOR H (HF1), which is a
member of the alternative pathway of the complement cascade. Mutations in CFH have been
found in persons with Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type
II. Screening is offered to persons with biopsy-proven DDD/MPGNII; we will also screen other
complement-related genes.
Testing turn-around time is three months.
sequencing.
Testing for CFH is performed by bidirectional
Sending a Sample
1. There is NO charge for this service. (We will NOT cover the costs of phlebotomy or
shipping.)
2. Send a purple-top tube with 8-10 cc blood clearly labeled with NAME, DATE OF BIRTH,
and AGE.
3. For mutation screening of CFH, a renal biopsy must be consistent with the diagnosis of
DDD/MPGNII at the electron microscopic level and by immunofluorescence. To inquire
about other CFZ-related diseases, please contact one of the persons listed below.
4. For other tests of the complement cascade, please contact one of the persons listed below.
5. Include the name, e-mail and telephone number of a contact person (physician, genetic
counselor).
6. 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.
7. DNA can be sent instead of whole blood.
Note: If the requested clinical information is NOT received and a patient consent form is
NOT signed, mutation screening will NOT be done. Each sample is evaluated on a case-percase basis and additional testing might be pursued if appropriate. We follow guidelines proposed
by the American College of Medical Genetics and do not offer carrier testing for autosomal
recessive deafness in minors.
Contacts: [email protected], [email protected], [email protected],
[email protected].