Ehlers-Danlos Syndrome Type 6
| TEST CODE | MG00930 |
| TEST NAME | Ehlers-Danlos Syndrome Type 6 |
| RELATED GENE | PLOD1 |
| SYNONYMOUS | PLOD1 |
| OMIM | 153454/225400 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Ehlers – Danlos Syndrome (EDSKSCL1) is an Autosomal Recessively inherited disease. Mutations in the PLOD1 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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