Maple syrup urine disease, type Ia
| Test Type | : | Molecular |
|---|---|---|
| Test Name | : | Maple syrup urine disease, type Ia |
| Gene Name | : | BCKDHA |
| OMIM No | : | 608348 |
| Phenotype Number | : | 248600 |
| LOKASYON GRCh38 | : | 19:41,397,817-41,425,001 |
| 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_000709 |
| Other informations | : |