homocystinuria
| TEST CODE | MG04540 |
| TEST NAME | homocystinuria |
| RELATED GENE | CBS |
| SYNONYMOUS | CBS |
| OMIM | 236200 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Homocystinuria is an autosomal recessively inherited disease. Mutations in the CBS 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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