Frequently Asked Questions

Genetic testing will help us determine the cause of your ophthalmic condition. Certain genetic variants are associated with other systemic health issues. Therefore, the results of genetic testing may help us manage both your ophthalmic and systemic symptoms. Once the genetic cause of your ophthalmic condition has been identified, you will have the option of asking family members if they would like to be tested. Our genetic counselor can also explain how your mutation could be passed on to your children.

Yes, there are genetic testing options for all income levels. Depending on your diagnosis, we may recommend starting with a free panel (performed at no cost to you), which covers many ophthalmic genetic conditions. In other cases, our retina specialists can determine if one gene is causing your symptoms based on the pattern of damage in your retina. In these cases, we can sequence only that gene for a few hundred dollars. For more complicated cases, we sometimes prefer to perform more comprehensive sequencing to analyze all your genes for $3,500.00.

Not all types of genetic testing are able to be billed to insurance. If the testing recommended for you can be billed to insurance, you will learn of the estimated out of pocket cost before you decide whether you would like to proceed with testing. Specifically, we will collect your sample and submit it to the lab, but the lab will not begin testing your sample until they have contacted your insurance company to obtain your estimated out of pocket cost. We will contact you to let you know the amount you are estimated to owe, and you will need to let us know if you would like to proceed with or cancel the testing.

No. All genetic testing samples are submitted to the lab within a few days of collection. Once the sample arrives to the lab, DNA is extracted and safely stored. DNA can be sequenced for decades. Even if your testing will be billed to insurance, DNA will be extracted and stored before the insurance authorization process has been completed.

This depends on the type of testing ordered:

• Whole Genome Sequencing (WGS) – analyzes 100% of DNA (all your genes and the entire gene for each)
• Whole Exome Sequencing (WES) – analyzes 2% of DNA, but this 2% is where most disease-causing mutations are found (all your genes, but only a portion of each gene)
• Panel Sequencing – analyzes a certain set of genes; typically, these are grouped by diagnosis. For example, a retinal dystrophy panel or a retinitis pigmentosa panel
• Single-gene Sequencing – analyzes a single gene.
• Sanger Sequencing – analyzes a specific mutation within a gene. For example, there is a misspelling in your DNA sequence, and it causes the wrong protein to be created.

The goal of the pre-testing genetic counseling session is to gather information about your own medical history as well as your family history. It will also help you understand how the genetics of your diagnosis work and what your options are for genetic testing. Ahead of the pre-testing genetic counseling session, you will be sent questions about your own medical history and your family history. We ask that you answer these questions ahead of your genetic counseling appointment because you may need to reach out to family members to obtain the necessary information. You will discuss your answers to these questions with our genetic counselor during your appointment. We charge a non-covered services (self-pay) fee for genetic counseling, and this does not include the cost of genetic testing.

Some people do not know their family history and are unable to get in touch with relatives. This is understandable. Genetic testing is still recommended in these cases because not all genetic mutations are inherited. For example, some mutations occur naturally during development and a person is born with a genetic condition even though it is not present in their mother or father

• Pre-testing genetic counseling – 90 minutes
• Follow-up genetic counseling – 1 hour
• Appointment with Ophthalmologist – 3-4 hours
• ERG – 2-3 hours (not every patient will need to have an ERG appointment)

An ERG (electroretinogram) is a test that records the electrical activity of the retina. For certain diagnoses, cones (day seeing cells) will be more affected than rods (night seeing cells) and vice versa. The ERG will reveal if there is damage in the cones, rods, or both and will also reveal the level of damage. As a result of measuring the level of damage, the ERG will need to be repeated periodically to see how the functionality of the retina is changing. This will enable the ophthalmologist to determine your prognosis and estimate the number of years of useful vision you may have left. An ERG takes about 2-3 hours to complete and because of this, it is scheduled as a separate appointment.

Imaging tests are a necessary aspect of ophthalmology appointments because they allow the physician to non-invasively assess the state of your retina. Here at CUIMC, we have many different types of imaging equipment which analyze different areas of the retina. For this reason, the types of imaging tests you receive change depending on your diagnosis. Each type of imaging test is different and can take anywhere from 5-30 minutes to complete. These imaging tests are performed at your appointment with the ophthalmologist.

Certain ophthalmic conditions can be co-morbid with other types of diseases. For example, retinitis pigmentosa can sometimes manifest in conjunction with autoimmune retinopathy. In these cases, the ophthalmologist will order a test to analyze the levels of antibodies in your blood which could affect the retina. There are also certain ophthalmic conditions that occur because of infections such as rubella or syphilis. In these cases, the ophthalmologist will order a test to measure the levels of antibodies which target those infections in your blood. Finally, the ophthalmologist may test the level of vitamin A in your blood if he suspects you have Stargardt disease. In certain cases, high doses of vitamin A are successful at slowing the progression of Stargardt disease.

Yes, there are hundreds of clinical trials and research studies currently in progress for ophthalmic genetic diseases. Please visit ClinicalTrials.gov to search your diagnosis or gene to learn about current clinical trials and research studies. We are also running many of our own trials here at CUIMC.

Please visit our Clinical Trials page to learn more about research studies and clinical trials being hosted at CUIMC. There is currently only one FDA-approved treatment for an ophthalmic genetic disease caused by a specific type of mutation in the RPE65 gene. Please visit LUXTURNA to learn more about this treatment.

There are many genes, which do not yet have treatments, clinical trials, or research studies available. The main advantage of having your genetic testing performed through Applied Genetics is our database. We keep all records of genetic testing in our database, which we search frequently as new treatments, clinical trials, and research studies become available. If a treatment, trial, or study becomes available for your gene, we will contact you to ask if you are interested in participating. If so, we will put you in contact with the team running the treatment or clinical trial and will help facilitate your enrollment, if you meet all eligibility criteria.