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