Folate transport deficiency
| TEST CODE | MG06550 |
| TEST NAME | Folate transport deficiency |
| RELATED GENE | FOLR1 |
| SYNONYMOUS | FOLR1 |
| OMIM | 613068 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Neurodegeneration due to Cerebral Folate Transport Deficiency is an Autosomal Recessively inherited disease. Mutations in the FOLR1 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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