Tyrosinemia Type 1

TEST CODE MG04790
TEST NAME Tyrosinemia Type 1
RELATED GENE FAH
SYNONYMOUS FAH
OMIM 276700
HEREDITY Autosomal Recessive
CLINICAL AREA Tyrosinemia Type 1 is an autosomal recessively inherited disease. Mutations in the FAH 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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