Alagille Syndrome Type 2
TEST CODE | MG00510 |
TEST NAME | Alagille Syndrome Type 2 |
RELATED GENE | NOTCH2 |
SYNONYMOUS | NOTCH2 |
OMIM | 610205 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Alagille Syndrome Type 2 (ALGS2) is an autosomal dominantly inherited disease. Mutations in the JAG1 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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