{"id":12450,"date":"2022-06-13T13:59:22","date_gmt":"2022-06-13T13:59:22","guid":{"rendered":"https:\/\/avellino.ai\/?page_id=12450"},"modified":"2023-01-25T23:20:16","modified_gmt":"2023-01-25T23:20:16","slug":"genetic-testing","status":"publish","type":"page","link":"https:\/\/avellino.ai\/ko\/genetic-testing\/","title":{"rendered":"Genetic Testing"},"content":{"rendered":"\t\t
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Genetic Testing<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Transforming health with groundbreaking diagnostics.<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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Why Genetic Testing?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\t\t\tGreater Knowledge Can Mean Better Outcomes\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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EARLIER\nTREATMENT<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\nPopulation-based genomic study of complex genetic diseases and the application of novel algorithms to develop diagnostics that helps medical professionals improve clinical outcomes<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Preventative Measures<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Supporting public health with comprehensive PCR-based testing.<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Advanced analysis and live surveillance of infectious disease and microbes at the genomic level to improve health outcomes<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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WELL-BEING<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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A custom-built platform that manages and analyzes large volumes of genomic data, aiding in cutting-edge approaches for clinical product development.<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Keratoconus<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t
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What is Keratoconus?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Keratoconus is a sight-threatening genetic eye disease that occurs when the cornea\u2014the clear, rounded front part of the eye\u2014thins and bulges into a cone-like shape. It can cause symptoms such as blurred vision, seeing glare and halos around light, eye pain, and sensitivity to light.<\/p>

If left untreated, the cornea will continue to change shape, and vision will progressively worsen over time. In advanced cases, keratoconus may result in the need for a corneal transplant.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Why Specialize in Keratoconus?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Despite the severity of the disease, keratoconus can be difficult to diagnose and, in many cases, is misdiagnosed.<\/p>

People experiencing blurred vision, eye irritation and strain, and other independently mild symptoms come to the optometrist\u2019s or ophthalmologist\u2019s office with no idea that they are developing a hereditary eye disease.

In the past, keratoconus and corneal dystrophy could only be diagnosed by a doctor physically examining the shape and appearance of the cornea with advanced imaging. This meant the disease may have gone undiagnosed and continued to progressively worsen until it permanently affected the individual\u2019s vision.<\/p>

This is why early and accurate diagnosis with AvaGen\u2122 the Genetic Eye Test is a vital step for maintaining eye health.<\/p>

In Avellino\u2019s genetic testing for keratoconus, we supplement diagnostic data and environmental factors with genetic data analysis to diagnose suspected and asymptomatic patients early. This allows doctors to confidently make decisions about patient management and treatment.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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How Do We Test?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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AvaGen\u2122 is the first genetic test that uses personalized genetic data to accurately quantify the risk of keratoconus and the presence of TGFBI corneal dystrophies. Preemptive screening allows eye care providers and patients to work together to plan for healthier vision moving forward, including earlier implementation of preventive strategies.

To test, eye care providers collect a sample from the patient with a simple buccal (cheek) swab.

They send the sample to Avellino for analysis, where our team of experts uses advanced automated machinery to identify any of the 75 genes or 2,000+ variants<\/strong> that indicate a risk for keratoconus.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\t\t\tOther tests on the market sequence 4 or fewer genes, with most sequencing only.1<\/sup>\n\nWhen the analysis is complete, we upload the AvaGen report in the form of a polygenic risk score to our HIPAA-compliant portal.\n\nThe test can also be used as an aid for clinical diagnosis and a tool prior to refractive surgery.\n\nFor additional details read our white paper.\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Who is affected & what are the implications? <\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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The incidence of keratoconus is low,1<\/sup> but some areas of the world are showing \u201cepidemic outbreaks\u201d \u2014 which is the result of a combination of both genetic and environmental factors coupled with improved and more readily accessible diagnostics.2<\/sup><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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The incidence of keratoconus in the<\/p>

UNITED STATES<\/strong><\/span> is 1 in 2000 people.3<\/sup><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSaudi Arabia\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\t1 in 21 people 4<\/sup>\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t1 in 375 people 5<\/sup>\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t86 per 1 million people\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t54.5 per 1 million people 6<\/sup>\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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1. Keratoconus. National Organization for Rare Disorders. https:\/\/rarediseases.org\/rare-diseases\/keratoconus\/<\/p>

2. Alio J, ed. Keratoconus: Recent advances in diagnosis and treatment. Springer International Publishing; Cham, Switzerland. 2017.<\/p>

3. Gordon-Shaag A, Millodot M, Shneor E, Liu Y. The genetic and environmental factors for keratoconus. Biomed Res Int. 2015;2015:795738.<\/p>

4. Torres Netto EA, Al-Otaibi WM, Hafezi NL, et al. Prevalence of keratoconus in pediatrics patients in Riyadh, Saudi Arabia. Br J Ophthalmol 2018;102:1436-1441.<\/p>

5. Godefrooij DA, de Wit GA, Uiterwaal CS, Imhof SM, Wisse RP. Age-specific incidence and prevalence of keratoconus: A nationwide registration study. Am J Ophthalmol 2017;175:169-172.<\/p>

6. Barbara A, Ed. Textbook on keratoconus: New insights. Jaypee Brothers Medical Publishers; New Delhi, India. 2012.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Keratoconus Facts & Figures<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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600,000 Patients<\/h3>

makes up the U.S.\nkeratoconus market.\nThat comes out\nto 1.1M eyes<\/p><\/div><\/div>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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3.6 Million Adults<\/h3>

are at risk for\nkeratoconus in\nNorth America<\/p><\/div><\/div>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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Frequent Rx Changes<\/h3>

are physical signs\noften overlooked as\npossible keratoconus<\/p><\/div><\/div>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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1 Out of 5 People<\/h3>

with keratoconus\nwill need a corneal\ntransplant<\/p><\/div><\/div>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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The Teenage Years<\/h3>

is often when\nkeratoconus\nprogresses<\/p><\/div><\/div>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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Corneal Dystrophy<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t
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What is Corneal Dystrophy?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Corneal dystrophy is a genetic eye disease. Corneal dystrophies cause abnormal build-up of material in the layers of the cornea, which can lead to blurry vision, light sensitivity, eye pain, and even vision loss.<\/p>

There are many types of corneal dystrophies, but one group of sight-threatening corneal dystrophies that AvaGen\u2122 tests for are called TGFBI corneal dystrophies. TGFBI corneal dystrophies are a group of rare and harmful inherited eye disorders that run in families and cause changes in the cornea ranging from swelling to a buildup of abnormal material.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Why Specialize in Corneal Dystrophy?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Most corneal dystrophies are an autosomal dominant<\/strong> genetic disease that can result from just one abnormal gene. It only takes inheriting that gene from one parent, or a single gene mutating in the child, to be affected with corneal dystrophy.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

\n\t\t\t\t
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<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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How Do We Test?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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AvaGen\u2122 tests for the presence of anyTGFBI-gene-related corneal dystrophy variants and displays them with a reported genotype.<\/p>

Identifying corneal dystrophy early allows eye care providers to offer a range of treatment options and preventive strategies for the patient.<\/p>

AvaGen\u2122 detects the following TGFBI-associated corneal dystrophies:<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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\u2022 Epithelial Basement Membrane<\/p>

\u2022 Granular Type 1<\/p>

\u2022 Granular Type 2<\/p>

\u2022 Lattice Type 1<\/p>

\u2022 Lattice Type IIIA<\/p>

\u2022 Reis-Bucklers<\/p>

\u2022 Schnyder\u2019s-like<\/p>

\u2022 Thiel-Behnke<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Who is Affected? What are the Implications?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Corneal dystrophy is a rare disorder with a low prevalence rate.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\t\t\tThe incidence of keratoconus in the\n\nUNITED STATES<\/strong><\/span> is 1 in 2000 people.3<\/sup>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Outside the U.S., corneal dystrophy prevalence varies by country:<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSouth Korea\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tGranular Corneal Dystrophy\ntype 2 affects about\n1 in 870 people.8<\/sup>\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCHINA\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tTGFBI Corneal Dystrophy\naffects about\n1 in \n416 people.8<\/sup>\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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References:<\/strong><\/p>

7. Musch DC, Niziol LM, Stein JD, Kamyar RM, Sugar A. Prevalence of corneal dystrophies in the United States: estimates from claims data. IOVS. 2011;52(9):6959-6963.<\/p>

8. Chao-Shern C, Me R, DeDionisio LA, et al. Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a Chinese family. Eye (Lond). 2018;32(1):39-43.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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Glaucoma<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t
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What is Glaucoma?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
\n\t\t\t\t
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<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Glaucoma is a hereditary eye disease that affects the optic nerve.

One effect of glaucoma is that fluids in the eye don\u2019t drain adequately, so pressure builds up in the eye. This pressure can damage the optic nerve and the damage to the nerve can eventually lead to blindness.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Why Specialize in Glaucoma?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
\n\t\t\t\t
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<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Glaucoma is the second leading cause of blindness<\/strong> globally and researchers expect an increase in the number of people affected in the coming years. With so many people affected glaucoma screening tests like AvaGen Glaucoma can help eyecare providers make better, earlier decisions for patient care.<\/p>

Glaucoma can be either polygenic or monogenic, but the polygenic variants are more prevalent in the general population. Monogenic glaucoma tends to be an early-onset disease, and people who develop monogenic glaucoma in their youth may later develop polygenic glaucoma as well.<\/p>

This makes our 2-in-1 genetic test for glaucoma particularly important for strategic preventive treatment AvaGen Glaucoma is expected to launch nationwide in 2023.<\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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How Do We Test?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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AvaGen Glaucoma tests for glaucoma genes, both polygenic and monogenic, using two separate testing systems and combines the results into one report.<\/p>

This 2-in-1 design to our glaucoma eye test allows eye care providers to screen for a patient\u2019s risk of developing both early-onset monogenic glaucoma and later-onset polygenic glaucoma.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Who is affected?
\nWhat are the implications?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
\n\t\t\t\t
\n\t\t\t\t\t\t\t\t\tAccording to the National Eye Institute, glaucoma affects 2.7 million people worldwide<\/strong>.1<\/sup>\n\nIn the United States, glaucoma disproportionately affects African American and Asian populations, but most clinical studies published to date have been conducted in Caucasian populations. Therefore, Avellino is dedicating efforts to collect data from multi-ethnic patients with glaucoma to improve the ability of the test to provide a PRS for patients of different ethnicities.\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
\n\t\t\t\t
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References:
<\/strong><\/p>

National Eye Institute. Glaucoma Data and Statistics. 2019. July 17, 2019.<\/p>

Accessed December 14, 2021. https:\/\/www.nei.nih.gov\/learn-about-eye-health\/outreachcampaigns- and-resources\/eye-health-data-and-statistics\/glaucoma-data-and-statistics<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

Why Genetic Testing? Greater Knowledge Can Mean Better Outcomes EARLIER TREATMENT Population-based genomic study of complex genetic diseases and the application of novel algorithms to develop diagnostics that helps medical professionals improve clinical outcomes Preventative Measures Supporting public health with comprehensive PCR-based testing. Advanced analysis and live surveillance of infectious disease and microbes at the […]<\/p>\n","protected":false},"author":16,"featured_media":0,"parent":0,"menu_order":12,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_eb_attr":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-12450","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/avellino.ai\/ko\/wp-json\/wp\/v2\/pages\/12450","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/avellino.ai\/ko\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/avellino.ai\/ko\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/avellino.ai\/ko\/wp-json\/wp\/v2\/users\/16"}],"replies":[{"embeddable":true,"href":"https:\/\/avellino.ai\/ko\/wp-json\/wp\/v2\/comments?post=12450"}],"version-history":[{"count":6,"href":"https:\/\/avellino.ai\/ko\/wp-json\/wp\/v2\/pages\/12450\/revisions"}],"predecessor-version":[{"id":13533,"href":"https:\/\/avellino.ai\/ko\/wp-json\/wp\/v2\/pages\/12450\/revisions\/13533"}],"wp:attachment":[{"href":"https:\/\/avellino.ai\/ko\/wp-json\/wp\/v2\/media?parent=12450"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}