Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The protein product of the uromodulin gene is better known as Tamm-Horsfall protein, the most abundant protein excreted by normal urine. Although caused by mutations, the pathogenetic mechanism behind hyperuricemic nephropathy, medullary and glomerular cystic kidney diseases has yet to be elucidated.
The gene consists of 12 exons, of which 11 are translated.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
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