Glycogen Storage Disease Type 9D (PHKA1 TG)
| TEST CODE | MG05770 |
| TEST NAME | Glycogen Storage Disease Type 9D (PHKA1 TG) |
| RELATED GENE | PHKA1 |
| SYNONYMOUS | PHKA1 |
| OMIM | 300559 |
| HEREDITY | X linked Recessive |
| CLINICAL AREA | Glycogen Storage Disease Type 9D is an X-linked Recessively inherited disease. Mutations in the PHKA1 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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