Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene encodes a functional protein of glomerular podocytes. If mutated familial glomerulosclerosis 1 occurs.
The gene ACTN4 that is located on chomosom 19 (19q13) spans about 84.8kb. The 21 exons are all coding.
| 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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