Bethlem myopathy 1
| Test Type | : | Molecular |
|---|---|---|
| Test Name | : | Bethlem myopathy 1 |
| Gene Name | : | COL6A2 |
| OMIM No | : | 120240 |
| Phenotype Number | : | 158810 |
| LOKASYON GRCh38 | : | 21:46,098,070-46,132,848 |
| 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_001849 |
| Other informations | : |