Disorders

Achromatopsia 3

Synonym(s): Pingelapese Achromatopsia, Pingelapese Blindness

Gene	Locus	Protein
CNGB3	8q21.3	Cyclic nucleotide-gated cation channel beta-3

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

^* 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.