Hyperphenylaleninemia Type A
| TEST CODE | MG08630 |
| TEST NAME | Hyperphenylaleninemia Type A |
| RELATED GENE | PTS |
| SYNONYMOUS | PTS |
| OMIM | 261640 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Hyperphenylaleninemia Type A is an autosomal recessively inherited disease. Mutations in the PTS 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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