Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Das SLC25A15-Gen kodiert eine wichtiges Transportproteins des Harnstoffzyklus. Mutationen führen zur autosomal rezessiven Erkrankung der HHH-Syndroms
| Research | 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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