Congenital Glycolysis Defect
| TEST CODE | MG01630 |
| TEST NAME | Congenital Glycolysis Defect |
| RELATED GENE | PMM2 |
| SYNONYMOUS | PMM2 |
| OMIM | 212065 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Congenital Glycolysis Defect (CDG1A) is an Autosomal Recessively inherited disease. Mutations in the PMM2 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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