Fuhrmann Syndrome

TEST CODE MG03160
TEST NAME Fuhrmann Syndrome
RELATED GENE WNT7A
SYNONYMOUS WNT7A
OMIM 228930
HEREDITY Autosomal Recessive
CLINICAL AREA Fuhrmann Syndrome is an autosomal recessively inherited disease. Mutations in the WNT7A 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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