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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