Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
| Test Type | : | Molecular |
|---|---|---|
| Test Name | : | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects |
| Gene Name | : | B3GAT3 |
| OMIM No | : | 606374 |
| Phenotype Number | : | 245600 |
| LOKASYON GRCh38 | : | 11:62,615,295-62,621,985 |
| Sample Type | : | EDTA BLOOD |
| Result Time | : | 45-60 Day |
| Type of Transfer | : | 2-24 C˚ |
| SUT Code | : | G100390 |
| Transaction Name | : | Next Generation DNA Sequencing, 1 Gen |
| Method | : | Sequencing |
| Ref SEQ | : | NM_012200 |
| Other informations | : |