Axenfeld-Rieger Syndrome

TEST CODE MG04070
TEST NAME Axenfeld-Rieger Syndrome
RELATED GENE PITX2
SYNONYMOUS PITX2
OMIM 180500
HEREDITY Autosomal Dominant
CLINICAL AREA Axenfeld-Rieger Syndrome is an autosomal dominantly inherited disease. Mutations in the PITX2 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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