Disorders


 

Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type


Synonym(s): Bothnia Retinal Dystrophy

 

OMIM

GeneLocusProtein
RLBP115q26.1Retinaldehyde-binding protein 1

Laboratory Test Method Prenatal Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Sequence analysis of the entire coding region
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA• Sequence analysis of select exons
GENETAQ, Molecular Genetics Centre - Malaga, Spain• 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
• Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, USA• 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.

Loading...