Disorders

Age-Related Macular Degeneration

Synonym(s): Age Related Macular Degeneration, ARMD, Senile Macular Degeneration

Gene	Locus	Protein
ABCA4	1p22	Retinal-specific ATP-binding cassette transporter
ARMS2	10q26.13	Age-related maculopathy susceptibility protein 2
C2	6p21.3	Complement C2
C3	19p13.3-p13.2	Complement C3
CFB	6p21.3	Complement factor B
CFH	1q32	Complement factor H
ERCC6	10q11	DNA excision repair protein ERCC-6
FBLN5	14q31	Fibulin-5
HMCN1	1q25.3-q31.1
HTRA1	10q26.3	Serine protease HTRA1
MT-ND2	mitochondria	NADH-ubiquinone oxidoreductase chain 2
RAX2	19p13.3	Retina and anterior neural fold homeobox protein 2

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Targeted mutation analysis
Bay Area Health Trust - Hamilton Regional Laboratory Medicine Program, Bay Area Genetic Laboratory - Hamilton, Canada	• Targeted mutation analysis
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Targeted mutation analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Targeted mutation analysis
National Jewish Health, Advanced Diagnostic Laboratories (ADx) - Denver, CO, USA	• Targeted mutation analysis
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA	• Targeted mutation analysis
Sequenom CMM, Sequenom Center for Molecular Medicine - Grand Rapids - Grand Rapids, MI, USA	• Targeted mutation analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain

^* 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.