See Exactly What You'll Receive
Below is a complete sample report based on real test output. Your report will contain your personal genetic data and individualized recommendations.
Report ®
Phone: 866.964.5182
Fax: 866.964.5184
Patient Name
–––––, –––
DOB
August 19, 1943
Gender
M
Accession
5008217
Specimen Type
Buccal Sample
Age
82
Collection Date
April 02, 2026
Receipt Date
April 07, 2026
Patient Genotype Group
GTG2
10-Year Risk for Progression to CNV or GA
Progression Risk to CNV or GA
18%
2-Year
31%
5-Year
53%
10-Year
Genetic Risk Percentile
Patient's value: 36
Average Risk
Supplement Recommendation based on CFH and ARMS2 genotyping*
AREDS without Zinc
Genetic Features
| Gene | SNP | Result | Risk |
|---|---|---|---|
| CFH | rs3766405 | CC | ** |
| CFH | rs412852 | CC | ** |
| ABCA1 | rs1883025 | CC | ** |
| APOE | rs7412 | CC | - |
| APOE | rs429358 | CT | * |
| ARMS2 | rs10490924 | GG | - |
| C2 | rs9332739 | GG | ** |
| C3 | rs2230199 | CC | - |
| CETP | rs3764261 | CC | - |
| CFB | rs541862 | AA | - |
| CFI | rs10033900 | CT | * |
| COL8A1 | rs13095226 | TT | - |
| LIPC | rs10468017 | CT | * |
| TIMP3 | rs9621532 | AA | ** |
Non Genetic Features
| Risk Parameter | Value |
|---|---|
| AMD Status OD | Early AMD |
| AMD Status OS | Early AMD |
| Smoking | Quit |
| Education | High School or Greater |
| Height | 6' 2" |
| Weight | 220 |
| BMI | 28 |
*Results and interpretation protected by US Patent US-9896728-B2
About
This test is a combined prognostic and pharmacogenetic DNA test designed to determine a patient's risk of progression to advanced Age-related Macular Degeneration (AMD) and aid in the selection of appropriate eye supplement therapies based on a patient's individual genetic risk profile. Based upon a patient's combined genotypes at certain CFH and ARMS2 loci, the supplement shown to afford the greatest reduction in the 7-year rate of progression to advanced AMD for their genotype is recommended[1,2,3]. The use of CFH and ARMS2 genotypes can identify 1/6 people who experience twice the risk of progression to choroidal neovascular disease if exposed to daily AREDS zinc supplements (1,2,3). It also identifies those who benefit significantly from zinc prophylaxis. The use of genotypes to select supplements is proprietary and protected by an issued US Patent which has been licensed exclusively to the company. This reflects our pioneering efforts in genetics, AMD and selecting appropriate zinc exposures.
AMD Prognostic Result Interpretation
The prognostic result within the test combines SNP genotyping with phenotype and environmental factors to predict a patient's risk of progression to geographic atrophy (GA) or choroidal neovascularization (CNV), at 2, 5 and 10 years (4). Reported risk scores are calculated utilizing a Cox regression model for AMD progression derived from an analysis of samples from the National Eye Institute (NEI) Age-Related Eye Disease Study (AREDS) (5). The variables used in this risk calculation include the patient's genotype at 14 AMD-associated SNPs, the current AMD status in both eyes according to the Clinical Age-Related Maculopathy Staging (CARMS) System, age, smoking history, education level and body mass index (BMI). The Genetic Risk for each patient is expressed as a multiple of the amount of AMD genetic risk observed in an average US Caucasian population. This reflects the inherited baseline risk which remains constant throughout an individual's lifetime. Although an individual may have a high genetic risk, their absolute risk of progression over 10 years may be low if they have no clinical disease features. NOTE: Education level is assumed to be High School or equivalent for this score determination if not otherwise specified on the test requisition form. If patient height and weight were not provided, Body Mass Index (BMI) is assumed to be the U.S. average, 26.6 for males and 26.5 for females (Source: CDC), for this score determination.
Genotype Reference
| Gene | SNP | Low Risk | Medium Risk | High Risk |
|---|---|---|---|---|
| CFH | rs3766405 / rs412852 haplotypes | All others | CC/CT or CT/CT | CC/CC |
| CFI | rs10033900 | CC | CT | TT |
| C3 | rs2230199 | CC | CG | GG |
| C2 | rs9332739 | CC | CG | GG |
| CFB | rs541862 | GG | AG | AA |
| LIPC | rs10468017 | TT | CT | CC |
| ABCA1 | rs1883025 | TT | TC | CC |
| CETP | rs3764261 | CC | CA | AA |
| COL8A1 | rs13095226 | CC | TC | TT |
| APOE | rs7412 / rs429358 haplotypes | CC/CC | All others | TT/TT |
| TIMP3 | rs9621532 | CC | CA | AA |
| ARMS2 | rs10490924 | GG | GT | TT |
Note: This table is for reference purposes, and is not part of the Macula Risk report
Description of Test Procedure
DNA was isolated from the patient's buccal swab specimen and the 14 genetic regions associated with AMD were amplified using quantitative polymerase chain reaction (PCR).
CFH / ARMS2 Genotype Groups
| CFH Risk alleles | |||
|---|---|---|---|
| 0 | 1 | 2 | |
| 0 ARMS2 | GTG1 | GTG1 | GTG2 |
| 1 ARMS2 | GTG3 | GTG3 | GTG4 |
| 2 ARMS2 | GTG3 | GTG3 | GTG4 |
Test Limitations
The Test has been developed using strict quality assurance guidelines; however, the chance of a false result due to laboratory errors incurred during any phase of testing cannot be completely excluded. If insufficient quality or quantity of DNA was extracted from the specimen the testing may not be completed. Rare single nucleotide polymorphisms in the primer/probe annealing regions could interfere with the performance of this test. The test will not detect DNA sequence variations or abnormalities other than those stipulated in this report, and interpretation of the clinical significance of the reported sequence variations applies only to prediction of risk for advanced AMD and vitamin/mineral prophylaxis has not been validated for AMD risk progression in non-Caucasian populations.
Compliance Statement
Macula Risk genetic determinations are performed by Dynacare Inc. a COLA- and Ontario Provincial Ministry of Health-certified molecular testing laboratory, owned and operated by LabCorp inc.. The technical performance specification of the test were established by this reference testing facility through rigorous validation testing and satisfy the Canadian requirements for use in clinical decision making. CLIA licensure for this reference laboratory is pending and for this reason, results received by US practitioners during this period must be considered to be "for Research Use Only (RUO)" and for this reason alone, should not be relied on for making clinical decisions.
References
1. Vavvas DG, Small KW, Awh CC, Zanke BW, Tibshirani RJ, Kustra R. CFH and ARMS2 genetic risk determines progression to neovascular age-related macular degeneration after antioxidant and zinc supplementation. Proc Natl Acad Sci U S A. 2018 Jan 23;115(4)
2. Awh CC, Hawken S, Zanke BW. Treatment response to antioxidants and zinc based on CFH and ARMS2 genetic risk allele number in the Age-Related Eye Disease Study. Ophthalmology. 2015 Jan;12(1):162.
3. Awh CC, Lane AM, Hawken S, Zanke, B, Kim, I. CFH and ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration. Ophthalmology 2013;120(11):2317-23.
4. Seddon JM, Rosner B. Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals. Am J Ophthalmol. 2019 Feb;198:223-261.
5. Age-Related Eye Disease Study Research Group. A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8. Arch Ophthalmol. 2001, Oct;119(10):1417-36.
Accession Number: 5008217
Patient Name: –––––, –––