List of diseases covered by
Waardenburg Syndrome NGS panel
| Gene | Condition |
| EDN3 | Waardenburg syndrome, type 4B |
| EDNRB | Waardenburg syndrome, type 4A; ABCD syndrome |
| MITF | Waardenburg syndrome, type 2A; Waardenburg syndrome/ocular albinism, digenic; COMMAD syndrome; Tietz albinism-deafness syndrome |
| PAX3 | Waardenburg syndrome, type 1; Waardenburg syndrome, type 3; Craniofacial-deafness-hand syndrome; Rhabdomyosarcoma 2, alveolar |
| SNAI2 | Waardenburg syndrome, type 2D; Piebaldism |
| SOX10 | Waardenburg syndrome, type 2E, with or without neurologic involvement; Waardenburg syndrome, type 4C; PCWH syndrome |
| TYR | Albinism, oculocutaneous, type IA; Albinism, oculocutaneous, type IB; Waardenburg syndrome/albinism, digenic |