Nicoladies Baraitser Syndrome
TEST CODE | MG08520 |
TEST NAME | Nicoladies Baraitser Syndrome |
RELATED GENE | SMARCA2 |
SYNONYMOUS | SMARCA2 |
OMIM | 601358 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Nicoladies Baraitser Syndrome is an autosomal dominantly inherited disease. Mutations in the SMARCA2 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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