PFIC Type 2
| TEST CODE | MG02540 |
| TEST NAME | PFIC Type 2 |
| RELATED GENE | ABCB11 |
| SYNONYMOUS | ABCB11 |
| OMIM | 601847 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Progressive Familial Intrahepatic Cholestasis (PFIC) Type 2 is an Autosomal Recessively inherited disease. Mutations in the ABCB11 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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