Segawa Syndrome

TEST CODE MG04080
TEST NAME Segawa Syndrome
RELATED GENE TH
SYNONYMOUS TH
OMIM 605407
HEREDITY Autosomal Recessive
CLINICAL AREA Segawa Syndrome is an Autosomal Recessively inherited disease. Mutations in the TH 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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