Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Inaktivierende Mutationen des Transkriptionsfaktorgens GCM2 führen zur autosomal rezessiven Form des familiären Hyhoparathyreoidismus. Aktivierende Mutationen dagegen sind für autosomal dominanten familiären isolierten Hyperparathyreoidismus verantwirtlich.
| 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 | 21 days | |
| Specimen type | genomic DNA |
Hypoparathyreoidismus
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AP2S1
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CASR
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GCM2
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GNA11
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HDR-Syndrom
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GATA3
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Hypoparathyreoidismus-Retardierung-Dysmorphismus-Syndrom
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TBCE
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Kenny-Caffey-Syndrom
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TBCE
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PTH
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