Disorders


 

LRAT-Related Leber Congenital Amaurosis


 

OMIM

GeneLocusProtein
LRAT4q32.1Lecithin retinol acyltransferase

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
Ghent University Hospital, DNA Laboratory - Ghent, Belgium  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, USA• Sequence analysis of select exons
• 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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