Tar Syndrome

TEST CODE MG06070
TEST NAME Tar Syndrome
RELATED GENE RBM8A
SYNONYMOUS RBM8A
OMIM 274000
HEREDITY Autosomal Recessive
CLINICAL AREA Tar Syndrome is an Autosomal Recessively inherited disease. Mutations in the RBM8A 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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