Epiphyseal dysplasia, multiple, with myopia and deafness
| Test Type | : | Molecular |
|---|---|---|
| Test Name | : | Epiphyseal dysplasia, multiple, with myopia and deafness |
| Gene Name | : | COL2A1 |
| OMIM No | : | 120140 |
| Phenotype Number | : | 132450 |
| LOKASYON GRCh38 | : | 12:47,972,966-48,006,211 |
| Sample Type | : | EDTA BLOOD |
| Result Time | : | 45-60 Day |
| Type of Transfer | : | 4° / 30° |
| SUT Code | : | G100390 |
| Transaction Name | : | Next Generation DNA Sequencing, 1 Gen |
| Method | : | Sequencing |
| Ref SEQ | : | NM_001844 |
| Other informations | : |