Disorders

CRX-Related Leber Congenital Amaurosis

Gene	Locus	Protein
CRX	19q13.3	Cone-rod homeobox protein

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
Ghent University Hospital, DNA Laboratory - Ghent, Belgium
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University of California-San Diego, Ophthalmic Molecular Diagnostic Laboratory - La Jolla, CA, USA
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, USA	• Sequence analysis of select exons • Targeted mutation analysis

^* 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.