Opitz BBB Syndrome Type 2
TEST CODE | MG04950 |
TEST NAME | Opitz BBB Syndrome Type 2 |
RELATED GENE | SPECC1L |
SYNONYMOUS | SPECC1L |
OMIM | 145410 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Opitz BBB Syndrome Type 2 is an Autosomal Dominant inherited disease. Mutations in the SPECC1L gene have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Blood with EDTA / Mucosa / Amniotic Fluid |
QUANTITY | 3 mL |
TAT | 20 DAYS |
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