Megdel Syndrome

TEST CODE MG03680
TEST NAME Megdel Syndrome
RELATED GENE SERAC1
SYNONYMOUS SERAC1
OMIM 614739
HEREDITY Autosomal Recessive
CLINICAL AREA Megdel Syndrome is an autosomal recessively inherited disease. Mutations in the SERAC1 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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