Eye Disorders and Retinopathies Panel

Eye Disorders and Retinopathies (Eye)

Panel:

This panel investigates genetic variances related to Eye disorders, such as night blindness, color blindness, Retinitis pigmentosa, nystagmus, Age-

related macular degeneration, Cataract, Glucomas, Microphthalmia, blindness, severe reduction of

visual acuity and many more as listed in the

last page of this pamphlet.

What are Eye disorders:

Eye disorders are medically defined as disorders that affect the retina, cornea, ophthalmic muscles as well as the optic nerves. There are hundreds of different

eye diseases and vision problems. More than 3.4 million people in the U.S. age 40 and older meet

the definition of “legal blindness” (visual acuity of

20/200 or less). Almost 7% of U.S. children under the age of 18 have been diagnosed with an eye

disease or condition. Nearly 3% of children under

18 are blind or whose vision is impaired.

Vision loss is among the top 10 causes of disability

in the U.S in adults over the age of 18 and one of

the most common disabling conditions in

children. The four most common eye conditions

leading to loss of vision or blindness are,

cataracts, retinopathy, glaucoma, and age-related macular degeneration. However, there are hundreds of different eye diseases and disorders. Genetics play main role in most of these conditions. The Eye disorder next generation sequencing (NGS) panel investigate germline variations in genes

associated with these disorders, and other conditions that may present with similar phenotypes.

Method:

The test looks for inherited genetic variations (germline mutations) associated with eye disorders.

Genes are instructions, written in DNA, for

building protein molecules. Different people can have different versions of the same gene. Each version has a slightly different DNA sequence.

Some of these variants affect health, such as those gene variants linked to dementia, and retinitis pigmentosa.

Several genes involved in Eye disorders, such as macular degeneration. Age-related macular degeneration (AMD) is a problem with retina. It happens when a part of the retina called the macula is damaged. With AMD patients lose central vision, while in most cases peripheral (side) vision will still be normal. Night blindness is another genetic

disorder in which vision is impaired in dim light.

Retinitis pigmentosa (RP) is a group of genetic rare eye diseases that affect the retina (the light-sensitive layer of tissue in the back of the eye). RP

makes cells in the retina break down

slowly over time, causing vision loss.

Testing whether someone carries a harmful (pathogenic) variant in one of these genes can confirm whether a condition is, indeed, the

result of an inherited syndrome.

The Eye disorder genetic test panel investigates a panel of genes (listed below) for the presence of genetic changes compared to human reference

(variants) that are linked to nervous system

related conditions. Express GeneTM Eye

Disorders and Retinopathies (Eye) Panel is a

Laboratory Developed Tests (LDT) validated at Express Gene Molecular Diagnostics Laboratory, using Twist Exome 2.0 and Illumina NovaSeq6000

Next Generation Sequencing (NGS)

Platform. This test has not been cleared

or approved by the FDA.

Purpose of the Diabetes genetic test:

The Diabetes genetic testing panel may be

appropriate for anyone who has a personal or family

history of type I or II diabetes mellitus disorders, particularly if those conditions are affect more than one

individual in the family, experiencing complications of diabetes and long-term disabilities. This panel can

help confirm a diagnosis and guide the course of treatment. Patients with type I or II diabetes mellitus disorders can benefit from supplement therapies or

go on preventive strategies. Diagnosis through

genetic testing can help with the development of a management plan. The Diabetes genetic testing

panel would help physicians to establish or

confirm the appropriate diagnosis. By confirming diagnosis, the Diabetes genetic testing panel help to identify risks for additional related symptoms, and assist

in modifying lifestyle changes. This panel can help

confirm a diagnosis and guide the course of treatment.

Patients with Eye disorders can benefit from potential

gene therapies or go on preventive strategies.

Diagnosis through genetic testing can help with

the development of a management plan. The Eye disorder genetic testing panel would help physicians to

establish or confirm the appropriate diagnosis.

Clinical Utility:

The Eye disorder genetic testing panel result in more personalized treatment and symptom management,

inform family members about their own risk

factors, connect patients to relevant resources and support, provide options for family planning.

What is the outcome of genetic test

results:

A. Positive Result. A positive test result indicates a pathogenic variant linked to Eye disorder has been identified. In some cases, Eye disorders are

dominant in which one copy of defective gene

is sufficient to cause the disease. Some other Eye

disorders are recessive disorders, meaning that both

copies of defective genes must be present to cause

the disease. Having a heterozygous pathogenic

variation means that the individual is a carrier of

the disease and may not experience the disease

condition. This knowledge provides the patient and

health care provider an opportunity to understand

and, in some cases, manage their treatment

plans.

B. Variation of uncertain significance (VUS).

If genetic testing shows a change that has

not been previously associated with Eye disorders,

the person’s test result may report a VUS. This

result may be interpreted as uncertain, which is to

say that the information does not help to clarify contribution of VUS to disease condition and is

typically not considered in making health care

decisions. Some gene variants may be reclassified

as researchers learn more about variants. Variants that initially classified as variants of uncertain significance

may reclassified as being benign (not

clinically important) or may eventually

be found to be associated with disease

phenotype. Therefore, it is important for the person

who is tested to keep in touch with the health care provider to ensure that they receive updates if

any new information on the variant is learned.

C. Negative result. A negative test result means that the laboratory did not find the specific disease linked

variant on list of genes that the test was designed to detect. Therefore, patient does not have a genetic variation associated with nervous system defects

in the genes tested by the Eye disorder

genetic testing panel.

Limitations of Testing:

This test is designed to detect individuals with

a germline pathogenic variant. Repeat expansion

disease, large deletion, duplication and copy

number variations, are not detectable by next

generation sequencing (NGS) and require

different test methodologies. Mutations in the

upstream and downstream regulatory regions and mutations outside exons of protein-coding

genes are not investigated. Certain types of

variants, such as structural rearrangements,

inversions, translocations, variants in regions with

low complexity, regions with complex architecture,

short tandem repeats, or segmental duplications

cannot be detected by this method. Additionally,

low level mosaicism, phasing, regions with matching pseudogenes causing mapping ambiguity cause

incorrect or insufficient variant calling.