Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The TRPC6 gene encodes an cation channel which is involved in podocyte function. When mutated, familial FSGS 2 or pulmonary arterial hypertension may ensue. It is not clear at the moment whether solely gain-of-function mutations can cause the disease of loss-of-funtion mutations too.
The gene TRPC6 is located on chromosome 11 (11q21-q22). It consists of 13 exons, all coding, that stetch about 134.3kb.
| 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 | 30 days | |
| Specimen type | genomic DNA |
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