Disorders

Lecithin Cholesterol Acyltransferase Deficiency

Synonym(s): Fish-Eye Disease, LCAT Deficiency, Norum Disease

Gene	Locus	Protein
LCAT	16q22.1	Phosphatidylcholine-sterol acyltransferase

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Oslo University Hospital HF - Ullevaal, Department of Medical Genetics - Unit for Cardiac and Cardiavasular Genetics - Oslo, Norway

^* 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.