Disorders


 

Age-Related Macular Degeneration


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

 

OMIM

GeneLocusProtein
ABCA41p22Retinal-specific ATP-binding cassette transporter
ARMS210q26.13 
C26p21.3Complement C2
C319p13.3-p13.2Complement C3
CFB6p21.3Complement factor B
CFH1q32Complement factor H
ERCC610q11DNA excision repair protein ERCC-6
FBLN514q31Fibulin-5
HMCN11q25.3-q31.1 
HTRA110q26.3Serine protease HTRA1
MT-ND2mitochondria 
RAX219p13.3Retina 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• Sequence analysis of the entire coding region
 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Targeted mutation analysis
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA• Sequence analysis of the entire coding region
 
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Targeted mutation analysis
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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• Sequence analysis of the entire coding region
 

* 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.

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