Homocystinuria MTHFR Deficiency
| TEST CODE | MG08720 |
| TEST NAME | Homocystinuria MTHFR Deficiency |
| RELATED GENE | MTHFR |
| SYNONYMOUS | MTHFR |
| OMIM | 236250 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Homocystinuria due to MTHFR deficiency is an autosomal recessive disease. Mutations in the MTHFR 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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