Disorders

Waardenburg Syndrome Type IVC

Synonym(s): Waardenburg Syndrome with Hirschsprung Disease, Type 4C, WS4C

Gene	Locus	Protein
SOX10	22q13.1	Transcription factor SOX-10

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.