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RetnaGene™ AMD
Seeing risk before it becomes reality.

High accuracy in predicting risk of age-related macular degeneration (AMD) disease progression.

The RetnaGene AMD test is designed to evaluate the risk of early or intermediate AMD progressing to advanced choroidal neovascular disease within 2, 5, and 10 years.

Safe. Noninvasive. Accurate.

The RetnaGene AMD test is a safe and highly accurate genetic test that uses a small DNA sample collected from a buccal (cheek) swab.





RetnaGene AMD test accuracy and reliability is backed by science:

  • The only test to date to specifically predict the progression of early AMD to choroidal neovascularization (CNV).
  • The only test to date that analyzes the four most clinically-relevant forms of the complement factor H gene, with high reporting accuracy.
  • The only test to date supported with a peer reviewed validation study performed in its own CLIA-certified laboratory.
  • The shortest test result turnaround time to date and access to a HIPPA-compliant physician portal for integration into EMR.


About Age-related Macular Degeneration.

AMD is an insidious, progressive eye disorder that starts with relatively harmless tiny yellow deposits on the retina (the light sensitive tissue in the eye) and increases in prevalence and severity with age. Geographic atrophy is considered the late stage of the dry form of AMD. Another advanced form of AMD is neovascular or 'wet AMD', which develops in 10 to 20% of all cases, causes profound loss of central vision and is the leading source of legal blindness in people over age 50 in the developed world. Wet AMD is caused by abnormal growth of fragile and leaky blood vessels, known as choroidal neovascularization in the macula (a small area where vision is keenest at the center of the retina) in response to chronic inflammatory stress. 

Incidence of AMD.

AMD is the most common cause of visual impairment and the leading cause of blindness in the elderly population in the developed world. It is estimated that there are currently 9.1 million patients in the USA with AMD, 1.7 million suffering with the vision-threatening late stage complications of choroidal neovascularization or geographic atrophy. Moreover, it is predicted that the number of cases of early AMD will increase to 17.8 million by 2050 and if untreated, cases of late-stage blinding AMD will increase to 3.8 million.

About The Test

The RetnaGene AMD test is a laboratory-developed test which helps you identify your at-risk Caucasian patients, 55 years or older, who may progress from early or immediate AMD to advanced choroidal neovascular disease. This highly accurate test provides risk scores over 2, 5, and 10 years, allowing you to individualize patient management.

Our proven model combines four risk factors:

  • Genotype The genetic profile of 12 disease-associated single nucleotide polymorphisms (SNPs)
  • Phenotype Baseline simplified severity scale grade25 (as defined by the Age-Related Eye Disease Study26 [AREDS])
  • Age 
  • Environment (smoking status)


Results reporting.

The easy-to-understand lab report provides a risk assessment for at-risk patients progressing to advanced choroidal neovascular disease within 2, 5, and 10 years. The Low, Moderate, or High Risk assignment reflects the patient’s risk relative to subjects of the same grade in our clinical validation study.

  • High Risk is defined as risk >75% of patients in the same grade.
  • Moderate Risk is defined as risk between 25-75% in the same grade.
  • Low Risk is defined as risk <25% of patients in the same grade.

 

No test is perfect.

The RetnaGene AMD is a highly accurate, genetic test. However, erroneous results may occur in rare cases.

 

Ordering.

Accuracy made easy. 
One of the benefits of the RetnaGene AMD test is that it's easy to implement in your office.

  • Use of a small DNA sample collected from a buccal (cheek) swab.
  • Results turnaround on average in 7 business days from receipt of sample in the lab.
  • Affordable, patient-friendly billing policy and patient assistance program.

How do I get started? 
Customer care can help at (877) 821-7266, or your Sequenom Laboratories Business Development Manager can facilitate setting your office up.

 

Support.

Our commitment to scientific integrity is matched only by our commitment to customer support.

You can’t outsource excellent service.
When you talk to someone at Sequenom Laboratories, you’re never talking to an outsourced contractor. Whether you're calling about billing, customer service, account management, or anything else, you’re talking to a Sequenom Laboratories specialist who is trained to help.

We'll bring the science to you.
Education is critical to understanding the usage and benefits of our tests. Thus, we have an entire team of field specialists, medical science liaisons, and national account directors whose job it is to turn you and your staff into experts. We want to ensure that you have all the skills and knowledge you need to optimize your practice.

Notification of results. 
You will be faxed all results. We want to help you with how to best communicate with your patients, so our customer support team is available to answer questions about any test result.

Patient education materials.
Your Sequenom Laboratories Business Development Manager would be happy to provide you with information to share with your patients, or you can email us at billingsupport@sequenom.com.

A test you can trust. Support you can count on.
Our commitment to you doesn't end with the test. It begins there. We are committed to providing you with outstanding customer support in all areas, including:
 
  • Sample collection and logistics.
  • Billing services and reimbursement questions.
  • Genetic counselors to discuss test information and results with clinicians.

AMD Risk Factors


1)  Phenotype   

Simplified Severity Scale
As defined by the Age-Related Eye Disease Study [AREDS]
25 , 26
The RetnaGene AMD test incorporates the simplified severity scale that assesses phenotypic risk factors in both eyes known to be associated with advanced age-related macular degeneration (AMD). The grading can be determined by a clinical examination or with photographs, and each eye is graded separately.

Presence of Large Drusen
An at-risk patient is assigned a one point score for the presence of one or more large drusen (≥125 µm). Two points are added if it is in both eyes. If there are no large drusen, but presence of drusen of at least 63 µm but <125 µm in both eyes, one point is added to the patient’s grade.

Presence of Pigment Abnormalities
An at-risk patient is assigned a one point score for the presence of abnormal pigment, defined as26:

  • Increased pigment (thought to be related to AMD).
  • Retinal pigment epithelial depigmentation.
  • Non-central geographic atrophy.

Advanced AMD in one eye scores two points, and the fellow eye is scored separately.  

Eye Description Risk Score  
RIGHT Presence of Advanced AMD
(*If neovascular AMD or geographic atrophy involving the center of the macular is present, skip B & C)
Line A Yes = 2*  
No = 0
Large Drusen ≥ 125 µm
(within 2 standard disc diameters of the center of the macula)
Line B Yes = 1 1
No = 0
Pigment Changes Line C Yes = 1 1
No = 0
LEFT Presence of Advanced AMD
(*If neovascular AMD or geographic atrophy involving the center of the macular is present, skip E & F)
Line D Yes = 2*  
No = 0  
Large Drusen ≥ 125 µm
(within 2 standard disc diameters of the center of the macula)
Line E Yes = 1 1
No = 0  
Pigment Changes Line F Yes = 1  
No = 0  
BOTH If there are no large drusen in either eye, but presence of drusen of at least 63 µm but <125 µm in both eyes, one point is added to the patient's grade. Line G Yes = 1  
No = 0
(Add lines A through G to get your patient's Simplified Severity Score)  TOTAL SCORE:  3

 

2) Genotype

Genetic Inheritance of AMD
While age and smoking habits play a part in disease onset and severity, a large risk component has been shown to be determined by inheritance of mutations in several genes. Because of this, no single genetic variant can account for AMD disease susceptibility. In fact, some DNA sequence changes and deletions are associated with risk, while others reduce risk. Therefore, analysis of multiple genetic variants is needed to assess the comprehensive genetic risk in an individual to provide a more accurate risk prediction.

The heritability of AMD is one of the highest of all known multifactorial diseases, with 46% for early AMD, and 71% for neovascular AMD32.

Assessment of Genetic Risk with the RetnaGene AMD Test
The RetnaGene AMD test captures the impact of 12 genetic variants (SNPs) located on 8 genes that are collectively associated with the risk of progressing to CNV in patients with early or intermediate stage disease. One of each of the inherited alleles is associated with high susceptibility to disease while the other is either neutral or protective compared to the average population. Therefore, a person’s genetic risk depends on whether they inherited 0, 1 or 2 copies of the high risk allele. The quantitative effect of the risk associated with each inherited allele has been determined in our clinical validation study and forms the basis of our log additive risk score.

 

 

3) Age

Although genetic test results do not change over time, AMD prevalence and incidence increases with age. AMD is the leading cause of vision impairment and blindness in the United States and is the estimated cause of 54.4% of visual impairment and 22.9% of blindness among persons of white race28.

Prevalence Rates for AMD
Prevalence rates30 of age-related macular degeneration among Caucasian adults age 40 years and older in the US:

Age 50-54: 0.27%
Age 55-59: 0.32%
Age 60-64: 0.49%
Age 65-69: 0.88%
Age 70-74: 1.74%
Age 75-79: 3.57%
Age 80+: 13.59%

There are approximately 1.75 million people age 40 years or older affected with advanced AMD, and another 7.3 million with intermediate AMD. Due to the aging US population, the number of advanced AMD cases will increase by almost 50% to almost 3 million by 202029.
 

4) Environmental Risk

AMD is a disease caused by the combined effects of genetics and environmental factors. Based on twin studies, both factors contribute to the risk of development and progression of the disease31.

In our clinical validation study, current cigarette smokers are twice as likely to develop neovascular AMD compared to non-smokers. Past smokers (those that have smoked for at least six months and are not currently smoking) are 36% more likely to develop neovascular AMD compared to non-smokers of the same genetic profile27.

Modifiable risk factors such as diet, body mass index (BMI) and smoking should be considered in the management of a patient.