Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Das COL4A1 Gen kodiert eine Kollagen alpha Kette, die in fast allen Basalmembranen zu finden ist. Mutationen rufen autosomal dominant vererbte Störungen in Nieren, Gefäßen und Gehirn hervor.
| Clinic | Method | Familienuntersuchung |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Hochdurchsatz-Sequenzierung |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
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