Cerebral creatine deficiency syndrome 1
| TEST CODE | MG10170 |
| TEST NAME | Cerebral creatine deficiency syndrome 1 |
| RELATED GENE | SLC6A8 |
| SYNONYMOUS | SLC6A8 |
| OMIM | 300352 |
| HEREDITY | X Linked Recessive |
| CLINICAL AREA | Cerebral creatine deficiency syndrome is a 1 X-linked recessively inherited disease. Mutations in the SLC6A8 gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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