Ehlers-Danlos Syndrome Type 7B
| TEST CODE | MG00940 |
| TEST NAME | Ehlers-Danlos Syndrome Type 7B |
| RELATED GENE | COL1A2 |
| SYNONYMOUS | COL1A2 |
| OMIM | 617821 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Ehlers-Danlos Syndrome Type 7B (EDSARTH2) is an Autosomal Dominant inherited disease. Mutations in the COL1A2 gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA / Paraffin Block |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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