Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
| Test Türü | : | Moleküler |
|---|---|---|
| Test Adı | : | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects |
| Gen Adı | : | B3GAT3 |
| OMIM No | : | 606374 |
| Phenotype Number | : | 245600 |
| LOKASYON GRCh38 | : | 11:62,615,295-62,621,985 |
| Numune Türü | : | EDTA'lı KAN |
| Sonuç Süresi | : | 45-60 Gün |
| Transfer Şekli | : | 4° / 30° |
| SUT Kodu | : | G100390 |
| İşlem Adı | : | Yeni Nesil DNA Dizileme, 1 Gen |
| Yöntem | : | Dizileme |
| Ref SEQ | : | NM_012200 |
| Diğer Bilgiler | : |