Disorders

PAX6-Related Anophthalmia

Gene	Locus	Protein
PAX6	11p13	Paired box protein Pax-6

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
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
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
Salisbury Healthcare NHS Trust, Wessex Regional Genetics Laboratory - Salisbury, Great Britain	• Sequence analysis of select exons • Mutation scanning of the entire coding region

^* 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.