Knobloch Syndrome
| TEST CODE | MG09150 |
| TEST NAME | Knobloch Syndrome |
| RELATED GENE | COL18A1 |
| SYNONYMOUS | COL18A1 |
| OMIM | 267750 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Knobloch Syndrome is an autosomal recessive disease. Mutations in the COL18A1 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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