Disorders

SOX2-Related Eye Disorders

Gene	Locus	Protein
SOX2	3q26.3-q27	Transcription factor SOX-2

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Centogene AG, Rare Disease Company - Rostock, Germany
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
GeneDx - Gaithersburg, MD, USA
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase

^* 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.