Nicoladies Baraitser Syndrome

TEST CODE MG08520
TEST NAME Nicoladies Baraitser Syndrome
RELATED GENE SMARCA2
SYNONYMOUS SMARCA2
OMIM 601358
HEREDITY Autosomal Dominant
CLINICAL AREA Nicoladies Baraitser Syndrome is an autosomal dominantly inherited disease. Mutations in the SMARCA2 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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