Alport Syndrome Panel
| TEST CODE | MG00540 |
| TEST NAME | Alport Syndrome Panel |
| RELATED GENE | COL4A3, COL4A4, COL4A5 |
| SYNONYMOUS | COL4A3, COL4A4, COL4A5 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Alport syndrome is a hereditary kidney disease that is often accompanied by sensorineural hearing loss and eye anomalies. It occurs as a result of faulty production of type 4 collagen, one of the basic components of the basement membrane, due to mutations in the COL4A3, COL4A4 and COL4A5 genes. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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