Disorders

Waardenburg Syndrome Type IIA

Synonym(s): WS2A

Gene	Locus	Protein
MITF	3p14.1-p12.3	Microphthalmia-associated transcription factor

Laboratory	Test Method	Prenatal	Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
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.