Citrullinemia Type 2
TEST CODE | MG07690 |
TEST NAME | Citrullinemia Type 2 |
RELATED GENE | SLC25A13 |
SYNONYMOUS | SLC25A13 |
OMIM | 603471 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Citrullinemia Type 2 is an autosomal recessively inherited disease. Mutations in the SLC25A13 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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