Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Inverted formin 2, INF2, is involved in actin elongation and nucleation. Mutations of the gene are responsible for two autosomal dominant disorders: focal segmental glomerulosclerosis (FSGS) and Charcot-Marie-Tooth disease (CMT). In a variable degree both disorders can be present in one patient.
| 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 | 25 days | |
| Specimen type | genomic DNA |
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