Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The WNK1 gene encodes a cytoplasmic serine-threonine kinase that plays an important role in signal transduction in the distal nephron. Mutations that cause an activation result in pseudohypoaldosteronism type 2 whereas loss-of-function mutations cause a hereditary sensory and autonomic neuropathy.
| 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 | 20 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Target mutation analysis |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
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