Sotos Syndrome

TEST CODE MG06480
TEST NAME Sotos Syndrome
RELATED GENE NSD1
SYNONYMOUS NSD1
OMIM 117550
HEREDITY Autosomal Dominant
CLINICAL AREA Sotos Syndrome 1 is an autosomal dominantly inherited disease. Mutations in the NSD1 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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