Genetic Testing for Inherited Retinal Diseases
If your eye doctor has told you that you have a retinal disease, or if you are caring for someone with a retinal disease, genetic testing can be an important next step.
Genetic testing can help explain the cause of the retinal disease, show if other family members might be at risk, and help you and your doctor understand how the condition may progress. But most importantly, it can help you understand if you qualify for treatments or clinical trials that may help preserve vision, and in some cases may improve vision. To qualify for these treatments, you must know exactly which gene is affected, and that’s only possible through genetic testing.
Our telehealth genetic counselors have helped hundreds of people with retinal diseases get answers. Through Genome Medical, you can access genetic counseling and testing from home. Telehealth appointments are available within one week, and no referral from your doctor is needed.
What is Inherited Retinal Dystrophy?
Inherited retinal dystrophy (IRD) refers to a group of rare eye conditions that cause progressive vision loss because the light-sensing cells in the retina don’t work as they should. These conditions can appear at any age and may affect night vision, side vision, or central vision, depending on which cells are involved.
Understanding the genetic cause of retinal disease through genetic testing not only confirms the diagnosis but can also guide care, identify risks for family members, and open doors to treatments and clinical trials designed specifically for certain genetic types of retinal disease.
If you or someone in your family has a retinal disease, it’s worth knowing that genetic testing has come a long way in the past few years. Even if you had testing before that didn’t find a cause—or gave uncertain results—you may still benefit from updated testing. Most retinal diseases are genetic, and newer tests can often find answers that weren’t possible before.
The American Academy of Ophthalmology recommends genetic counseling and/or testing for patients with retinal disease.
Schedule An Appointment
Meet with a board-certified genetic counselor in less than one week. Appointments are delivered via a 30-60 minute phone call.
We are an in-network provider with many commercial health insurance plans. View list. The cost of the genetic counseling session will be up to $250*, depending on if you pay out-of-pocket or choose to bill insurance. We also offer Financial Assistance based on need.
*Pricing subject to change. The cost of genetic counseling does not include the cost of genetic testing.
How Can Genetic Counseling & Testing Help Me?
Getting genetic counseling and testing doesn’t just confirm your diagnosis — it helps you and your care team take advantage of the newest treatments and trials, plan for the future, and understand risk for your loved ones.
With a genetic diagnosis, you and your care team can:
Better expect how fast changes may happen, and which parts of your vision are most likely to be affected.
Determine if you are eligible for approved gene therapies or clinical trials.
Help relatives decide whether to have testing, and provide information for planning the future.
What to Expect
Genetic Counseling
At the time of your appointment, your genetic counselor will call to review your personal and family medical history. If genetic testing is recommended, they’ll explain your options, discuss the benefits and risks, and guide you on next steps. Testing is entirely your choice based on the information you receive.
After your appointment, you’ll receive a written summary and guidance on next steps. You can share this with your healthcare team.
Genetic Testing
If you choose to proceed with genetic testing, it can often be done using a saliva sample. The collection kit will be mailed to you, and once your sample arrives at the lab, testing will begin.
Most test results are available within 2-4 weeks, though timing may vary based on the specific test ordered.
Get Your Results
If Genome Medical has ordered genetic testing for you, we will notify you as soon as your genetic test results are available. At that time, you will be able to schedule another genetic counseling appointment to discuss your results.
Helping You To Understand
Genetic test results can be complex. A genetic counselor can help you understand what the results mean—and what they don’t—for you and your family. They can explain how the results may guide your healthcare decisions and offer support as you think about the information and share it with your family members.
After your appointment, you’ll receive a written summary and guidance on next steps. You can share this with your healthcare team.
Why Patients Choose Genome Medical
At Genome Medical, we specialize in telehealth genetic services, guiding individuals and families through genetic counseling and testing so they can make informed decisions about their health. Why patients choose us:
- Expert care: We’ve provided genetic counseling to hundreds of patients with retinal diseases
- High satisfaction: 97% of patients would recommend us to others
- Insurance coverage: Our services are in-network with many commercial health plans, and we offer financial assistance
If you’re considering genetic testing, want to understand your family’s risk for inheriting a retinal disease, or have results and want to understand what they mean for your care and family members, we’re here to help.
What Our Patients Are Saying
The genetic counselor really provided a space for me to understand and ask questions. My medical experience up to this point had been extremely frustrating but this service has been a highlight that really changed things for me.
Genome Medical Patient
What Our Patients Are Saying
I am extremely grateful for the way my genetic counselor ‘held my hand’ and explained everything to me, what the test results meant and knowing what to do next concerning my son. He was my biggest concern.
Genome Medical Patient
What Our Patients Are Saying
Being able to advocate for myself and seek potential genetic diagnoses that will support future treatment is absolutely invaluable to my overall health. Thanks Genome Medical!
Genome Medical Patient
Frequently Asked Questions
- Help you understand how your personal and family medical history may impact your health
- Discuss genetic testing options that may be appropriate for you
- Explain what genetic test results mean for you and your family members
- Address any questions or concerns you have about genetic testing
- Provide recommendations for you and your healthcare provider to make medical decisions that may lower your risk
We are an in-network provider with most commercial health insurance plans. See a list at GenomeMedical.com/insurance-coverage. Coverage and pricing may vary. Please contact your insurance provider for your exact coverage and payment responsibility. Reference insurance CPT codes 96041 and S0265 and our NPI number 1407389695. .
If you use insurance, and we are in-network with your health plan, we will submit a claim on your behalf. You may get a bill for any outstanding balance depending on your coverage. Please note: the cost of genetic counseling does not include the cost of any genetic testing that may be recommended. You may receive a separate bill from the lab for genetic testing.
At this time, we do not accept government-affiliated insurance providers including Medicaid, Medicare and/or Tricare as a primary or secondary insurance (including Managed Medicare and Medicaid plans).
*Pricing subject to change
- Gather your personal and family health history. Talk to family members about any health conditions in the family, as well as the age that relatives were diagnosed.
- If you or a family member have had genetic testing, please upload a copy of the result/s to your Genome Medical patient portal before your appointment. You will get access to the patient portal once you schedule your appointment. This is very important to ensure your genetic counselor can prepare for your appointment.
- Think about questions you may have for your genetic counselor.
You will receive a phone call from your genetic counselor at the time of your scheduled appointment. Appointments are typically 30-60 minutes.
During the appointment, your genetic counselor will review your personal and family medical history, assess your risk for inherited genetic conditions, and may discuss the benefits and limitations of genetic testing. Your genetic counselor will also address your concerns or questions about genetic testing. If genetic testing is performed, your genetic counselor can explain what your results mean for you and your family.
Genetic testing involves looking at blood, saliva or other tissues to find changes in an individual's genes. These genetic changes may cause an increased chance of certain medical conditions.
Genetic testing is typically done at a specialized laboratory.
Genome Medical does not perform genetic testing. As a medical practice, Genome Medical’s providers can order genetic testing, when medically appropriate, for U.S.- based patients.
Genetic testing is useful in many areas of medicine and may change the medical care you or your family members receive. For example, genetic testing may help to diagnose a medical condition. Genetic test results may help you and your care providers make more informed decisions on how to prevent or treat a medical condition.
There are thousands of genetic tests available today. A genetic counselor can help you to understand what testing may be most appropriate for you. Genetic counselors can also help to explain what genetic test results may mean for you and your family.
In most cases, genetic testing can be performed on a blood or saliva sample.
If testing is done on a saliva sample, a collection kit can be sent to you in the mail and you can collect the sample from the convenience of your home. If a blood sample is needed, you may be directed to a location near you that can perform blood draws to have a sample collected. In either case, the sample then is mailed to the lab for the testing to be completed.
