Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The protein, TBC1 domain family member 8B, encoded by the TBC1D8B gene plays an important role in intracellular recycling processes. Mutations cause x-linked nephrotic syndrome type 20.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Dorval G et al. (2019) TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. 
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