| APERT-CROUZON DISEASE | |
|---|---|
| Analysis ID | 66 |
| Analysis location | “GENESIS” Centre for Medical Genetics |
| Diagnosed illness | APERT-CROUZON DISEASE |
| OMIM | #101200 |
| Clinical information | Apert disease is an autosomal dominant congenital disorder with craniosynostosis and syndactyly as hallmark features. Malformations include premature closure of cranial sutures, cleft palate, as well as syndactyly of hands and feet (fusion of all digits is frequent). Mental retardation may also be observed. In most cases the disease is due to de novo mutation in the FGFR2 gene (coding fibroblast growth factor receptor 2). |
| Type of analysis | molecular |
| Type of biological material | 5 ml peripheral blood collected in the EDTA tube |
| Analyzed genes | FGFR2 (e3a, e3c) |
| Analysis description | Sequencing analysis of the FGFR2 (e3a, e3c) gene - 2 common mutations p.S252W i p.P253R |
| Analysis indication | Clinical suspicion of Apert syndrome |
| Analysis time | 3-4 weeks |
| Refund | Yes |
| CGM laboratory name | Laboratory for diagnostics of the hereditary disorders |
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