Alagille Syndrome Panel (2 Genes)
| TEST CODE | MGN0200 |
| TEST NAME | Alagille Syndrome Panel (2 Genes) |
| RELATED GENE | JAG1, NOTCH2 |
| SYNONYMOUS | JAG1, NOTCH2 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Alagille syndrome is an autosomal dominant disorder characterized by certain disorders of the intrahepatic bile ducts associated with cholestasis, heart disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype. Approximately 39% of patients also have kidney disease, particularly renal dysplasia. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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