Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Das Proteinprodukt des CTNS-Gens kodiert den lysosomalen Cystin-Transporter, der, wenn er gestört is zu einer Speicherkrankheit mit renaler Manifestation, der Cystinose, führt.
| 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 |
| Clinic | Method | Multiplex ligationsabhängige Amplifikation |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
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