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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