Disorders


 

Achromatopsia 3


Synonym(s): Pingelapese Achromatopsia, Pingelapese Blindness

 

OMIM

GeneLocusProtein
CNGB38q21.3Cyclic nucleotide-gated cation channel beta-3

Laboratory Test Method Prenatal Carrier *
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Sequence analysis of select exons
• Deletion/duplication analysis
Institute for Ophthalmic Research, Molecular Genetics Laboratory - Tuebingen, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Linkage analysis
 
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA• Sequence analysis of the entire coding region
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - 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 select exons

* 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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