Coffin Siris Syndrome

TEST CODE MG03640
TEST NAME Coffin Siris Syndrome
RELATED GENE ARID1B
SYNONYMOUS ARID1B
OMIM 135900
HEREDITY Autosomal Dominant
CLINICAL AREA Coffin Siris Syndrome is an autosomal dominantly inherited disease. Mutations in the ARID1B gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Amniotic Fluid / CVS / Cord Blood
QUANTITY 3 mL
TAT 40 DAYS

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