Disorders

X-Linked Juvenile Retinoschisis

Synonym(s): Juvenile Retinoschisis, X-Linked Retinoschisis

Gene	Locus	Protein
RS1	Xp22.2-p22.1	Retinoschisin

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain
CeGaT GmbH - Tuebingen, Germany
diagenos - Osnabrueck, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Institute of Human Genetics, Ophthalmogenetic Diagnostics Group - Regensburg, Germany	• Linkage analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
National Institutes of Health, Ocular Genetics Laboratory - Bethesda, MD, USA
Netherlands Institute for Neuroscience, Molecular Ophthalmogenetics Laboratory - Amsterdam, Netherlands
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
Praxis fuer Humangenetik Wien - Vienna, Austria
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of select exons
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, USA

^* 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.