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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