Disorders


 

RDH12-Related Leber Congenital Amaurosis


 

OMIM

GeneLocusProtein
RDH1214q24.1 

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
  
Ghent University Hospital, DNA Laboratory - Ghent, Belgium• Sequence analysis of the entire coding region
 
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA• 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
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, USA• Sequence analysis of the entire coding region
• 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.

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