Alagille Syndrome Type 2

TEST CODE MG00510
TEST NAME Alagille Syndrome Type 2
RELATED GENE NOTCH2
SYNONYMOUS NOTCH2
OMIM 610205
HEREDITY Autosomal Dominant
CLINICAL AREA Alagille Syndrome Type 2 (ALGS2) is an autosomal dominantly inherited disease. Mutations in the JAG1 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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