Disorders


 

Cone-Rod Dystrophy 2


Synonym(s): CORD2

 

OMIM

GeneLocusProtein
CRX19q13.3Cone-rod homeobox protein

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University of California-San Diego, Ophthalmic Molecular Diagnostic Laboratory - La Jolla, CA, USA• 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
 

* 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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