Macular Degeneration, Age-Related, 2 DNA Markers (INACTIVE as of 11/18/2013)
Ordering Recommendation
Polymerase Chain Reaction/Fluorescence Monitoring
Mon, Thu
4-10 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Age-Related Macular Degeneration (AMD):
Characteristics: AMD is a degenerative disease of the retina that results in progressive loss of central vision; it is the most common cause of irreversible vision loss in the Western world. Dry AMD (90 percent of cases) is characterized by the presence of extracellular deposits called drusen; wet AMD (10 percent of cases) is associated with neovascularization of the choroid.
Prevalence: 1.6 percent at 52-64 years, 11 percent at 65-74 years and 28 percent at>74 years.
Inheritance: Multifactorial.
Risk Factors: Cigarette smoking, increasing age, BMI>24, dietary fat intake, Caucasian ethnicity, female gender and genetic mutations (below).
Mutations Tested: A69S (c.205G>T) in the ARMS2 gene (also known as LOC387715) (Age-related maculopathy susceptibility 2) and Y402H (c.1277T>C) in the CFH gene, encoding complement factor H. These mutations are associated with approximately 70 percent of the risk of AMD.
Clinical Sensitivity & Specificity: Unknown.
Methods: Polymerase chain reaction and fluorescence monitoring.
Analytical Sensitivity & Specificity: 99 percent.
Limitations: Mutations other than those targeted will not be detected. Diagnostic errors can occur due to rare sequence variations. The mutations tested are associated with risk of AMD; they may not be causal for the disorder.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

This test is not recommended for nonsymptomatic patients under 18 years of age. This assay detects the following variants: Y402H in CFH (complement factor H), and rs10490924 to assess age-related macular degeneration risk.
CPT Code(s)
Component Test Code*Component Chart NameLOINC
0051675Macular Degeneration - Y402H Variant
0051676Macular Degeneration - A69S Variant
0051677Macular Degeneration Interpretation
2001295Macular Degeneration - Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • Macular degeneration molecular assay