Epidermolysis Bullosa Simplex Type 1
| TEST CODE | MG03480 |
| TEST NAME | Epidermolysis Bullosa Simplex Type 1 |
| RELATED GENE | KRT14 |
| SYNONYMOUS | KRT14 |
| OMIM | 601001 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Epidermolysis Bullosa Simplex Type 1 is an autosomal recessively inherited disease. Mutations in the KRT14 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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