Linear Skin Defects with Multiple Congenital Anomalies 2 (LSDMCA2)
| TEST CODE | MGT0390 |
| TEST NAME | Linear Skin Defects with Multiple Congenital Anomalies 2 (LSDMCA2) |
| RELATED GENE | COX7B |
| SYNONYMOUS | COX7B |
| OMIM | 300887 |
| HEREDITY | X-linked Dominant |
| CLINICAL AREA | Linear Skin Defects with Multiple Congenital Anomalies 2 (LSDMCA2) is an X-linked dominantly inherited disease. Mutations in the COX7B 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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