Roberts Syndrome (ESCO2)

TEST CODE MG07000
TEST NAME Roberts Syndrome (ESCO2)
RELATED GENE ESCO2
SYNONYMOUS ESCO2
OMIM 268300
HEREDITY Autosomal Recessive
CLINICAL AREA Roberts Syndrome is an Autosomal Recessively inherited disease. Mutations in the ESCO2 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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