PFIC Type 3
TEST CODE | MG02550 |
TEST NAME | PFIC Type 3 |
RELATED GENE | ABCB4 |
SYNONYMOUS | ABCB4 |
OMIM | 602347 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Progressive Familial Intrahepatic Cholestasis (PFIC) Type 3 is an Autosomal Recessively inherited disease. Mutations in the ABCB4 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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