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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