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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