Mild Hyperphenylalaninemia, non-BH4-deficient

TEST CODE MG10830
TEST NAME Mild Hyperphenylalaninemia, non-BH4-deficient
RELATED GENE DNAJC12
SYNONYMOUS DNAJC12
OMIM 617384
HEREDITY Autosomal Recessive
CLINICAL AREA Mild Hyperphenylalaninemia (non-BH4-deficiency) is an Autosomal Recessively inherited disease. Mutations in the DNAJC12 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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