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

Loading...