Galactosemia Type 2 (GALK1 Whole Gene Sequence Analysis)
| TEST CODE | MG06280 |
| TEST NAME | Galactosemia Type 2 (GALK1 Whole Gene Sequence Analysis) |
| RELATED GENE | GALK1 |
| SYNONYMOUS | GALK1 |
| OMIM | 230200 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Galactosemia Type 2 is an autosomal recessively inherited disease. Mutations in the GALK1 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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