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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