Branched-chain ketoacid dehydrogenase kinase deficiency
| Test Type | : | Molecular |
|---|---|---|
| Test Name | : | Branched-chain ketoacid dehydrogenase kinase deficiency |
| Gene Name | : | BCKDK |
| OMIM No | : | 614901 |
| Phenotype Number | : | 614923 |
| LOKASYON GRCh38 | : | 16:31,108,380-31,117,650 |
| 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_005881 |
| Other informations | : |