3-Methylcrotonyl CoA Carboxylase 1 Deficiency MCCC1
| TEST CODE | MG07220 |
| TEST NAME | 3-Methylcrotonyl CoA Carboxylase 1 Deficiency MCCC1 |
| RELATED GENE | MCCC1 |
| SYNONYMOUS | MCCC1 |
| OMIM | 210200 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | 3-Methylcrotonyl CoA Carboxylase 1 Deficiency is an Autosomal Recessively inherited disease. Mutations in the MCCC1 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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