Disorders

Cone-Rod Dystrophy 6

Synonym(s): CORD6

Gene	Locus	Protein
GUCY2D	17p13.1	Retinal guanylyl cyclase 1

Laboratory	Test Method	Prenatal	Carrier *
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Deletion/duplication analysis
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain	• Sequence analysis of select exons
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.