Disorders

Congenital Stationary Night Blindness, Type 2B

Synonym(s): CSNB2B, Incomplete Congenital Stationary Night Blindness, Autosomal Recessive

Gene	Locus	Protein
CABP4	11q13.1	Calcium-binding protein 4

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Netherlands Institute for Neuroscience, Molecular Ophthalmogenetics Laboratory - Amsterdam, Netherlands
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* 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.