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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