Congenital Glycosylation Defect Type 1q
| TEST CODE | MG07950 |
| TEST NAME | Congenital Glycosylation Defect Type 1q |
| RELATED GENE | SRD5A3 |
| SYNONYMOUS | SRD5A3 |
| OMIM | 612379 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Congenital Glycosylation Defect Type 1q is an Autosomal Recessively inherited disease. Mutations in the SRD5A3 gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | EDTALI KAN |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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