Skeletterkrankungen
Osteogenesis imperfecta, dominant
Osteogenesis imperfecta, rezessiv
Osteoporose mit Frakturen, X-dominant
| Gen | OMIM | Methodik |
| PLS3 | 300131 | Sequenzierung |
Juvenile/vorzeitige Osteoporose, dominant
Osteoporose Pseudoglioma (OPPG) Syndrom, rezessiv
| Gen | OMIM | Methodik |
| LRP5 | 603506 | Sequenzierung |
Osteopetrose Typ 1, dominant
| Gen | OMIM | Methodik |
| LRP5 | 603506 | Sequenzierung |
Syndromale Osteogenesis imperfecta/ Cole-Carpenter-Syndrom, dominant
| Gen | OMIM | Methodik |
| P4HB | 176790 | Sequenzierung |
Syndromale Osteogenesis imperfecta/ Cole-Carpenter-Syndrom, rezessiv
Hypophosphatasie, dominant / rezessiv
| Gen | OMIM | Methodik |
| ALPL | 171760 | Sequenzierung |
Bruck Syndrom, rezessiv
| Gen | OMIM | Methodik |
| PLOD2 | 601865 | Sequenzierung |
Kranio-lentikulo-suturale Dysplasie, rezessiv
| Gen | OMIM | Methodik |
| SEC23A | 610511 | Sequenzierung |
Hier finden Sie den Anforderungsschein.