Disorders

Doyne Honeycomb Retinal Dystrophy

Synonym(s): DHRD, Malattia Leventinese

Gene	Locus	Protein
EFEMP1	2p16	EGF-containing fibulin-like extracellular matrix protein 1

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of select exons
University of California-San Diego, Ophthalmic Molecular Diagnostic Laboratory - La Jolla, CA, USA
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, USA	• Targeted mutation 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.