Alpha-methyl Acetoacetic Acituria
| TEST CODE | MG07860 |
| TEST NAME | Alpha-methyl Acetoacetic Acituria |
| RELATED GENE | ACAT1 |
| SYNONYMOUS | ACAT1 |
| OMIM | 607809 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Alpha-methyl Acetoacetic Acituria is an Autosomal Recessively inherited disease. Mutations in the ACAT1 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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