Congenital glycosylation disorder, type Iih
| TEST CODE | MG10060 |
| TEST NAME | Congenital glycosylation disorder, type Iih |
| RELATED GENE | COG8 |
| SYNONYMOUS | COG8 |
| OMIM | 611182 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Congenital glycosylation disorder, type Iih, is an autosomal recessively inherited disease. Mutations in the COG8 gene have been linked to the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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