Disorders

PDE6A-Related Retinitis Pigmentosa

Gene	Locus	Protein
PDE6A	5q31.2-q34	Rod cGMP-specific 3'

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.