Maple Urine Syrup

TEST CODE MG04850
TEST NAME Maple Urine Syrup
RELATED GENE DBT
SYNONYMOUS DBT
OMIM 248600
HEREDITY Autosomal Recessive
CLINICAL AREA Maple Urine Syrup is an Autosomal Recessively inherited disease. Mutations in the DBT 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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