Citrullinemia
TEST CODE | MG07780 |
TEST NAME | Citrullinemia |
RELATED GENE | ASS1 |
SYNONYMOUS | ASS1 |
OMIM | 215700 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Citrullinemia is an autosomal recessively inherited disease. Mutations in the ASS1 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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