Disorders

Blue-Mono-Cone-Monochromatic Type Colorblindness

Synonym(s): BCM, Blue Cone Monochromatism, CBBM

Gene	Locus	Protein
OPN1MW	Xq28	Red-sensitive opsin

Laboratory	Test Method	Prenatal	Carrier *
Institute for Ophthalmic Research, Molecular Genetics Laboratory - Tuebingen, Germany	• Targeted mutation analysis • Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region • Deletion/duplication analysis
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, USA	• Deletion/duplication 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.