Disorders


 

RPGR-Related Retinitis Pigmentosa


Synonym(s): RP, X-Linked

 

OMIM

GeneLocusProtein
RPGRXp11.4X-linked retinitis pigmentosa GTPase regulator

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
CeGaT GmbH - Tuebingen, Germany  
diagenos - Osnabrueck, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France  
Institute of Human Genetics, Ophthalmogenetic Diagnostics Group - Regensburg, Germany  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of select exons
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain  
Medgene, MedGene - Bratislava, Slovakia  
Netherlands Institute for Neuroscience, Molecular Ophthalmogenetics Laboratory - Amsterdam, Netherlands• Linkage analysis
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.

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