Hyperphenylalaninemia

TEST CODE MG09410
TEST NAME Hyperphenylalaninemia
RELATED GENE QDPR
SYNONYMOUS QDPR
OMIM 612676
HEREDITY Autosomal Recessive
CLINICAL AREA Hyperphenylalaninemia is an autosomal recessive disease. Mutations in the QDPR 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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