Ehlers-Danlos Syndrome Type 1
| TEST CODE | MG00900 |
| TEST NAME | Ehlers-Danlos Syndrome Type 1 |
| RELATED GENE | COL5A1 |
| SYNONYMOUS | COL5A1 |
| OMIM | 130000 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Ehlers – Danlos Syndrome Type 1 (EDSCL1) is an Autosomal Dominant inherited disease. Mutations in the COL5A1 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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