Genetic Testing for TTR Amyloidosis

If you have experienced these symptoms, you may have a condition called amyloidosis:

  • Heart failure or thick heart of unknown cause
  • Neuropathy without history of diabetes or known cause
  • Nerve pain, tingling, or numbness in feet or hands
  • Unexplained weakness, numbness, dizziness or digestive problems

Because amyloidosis is rare, and symptoms look like other conditions— it can often go undiagnosed. Genetic testing can help you find out if you have amyloidosis and which type you have. Our genetic counselors have helped thousands of people with known or suspected amyloidosis find clarity through genetic counseling and testing.

What is Amyloidosis?

Amyloidosis is a rare disease that happens when a protein called amyloid builds up in the body. Over time, amyloid deposits can collect in organs like the heart, kidneys, liver, nerves, or digestive system. This can make it harder for those organs to work the way they should and is potentially fatal.

If you or a loved one has experienced symptoms such as shortness of breath, fatigue, swelling in the legs or ankles, or numbness and tingling in the hands or feet, it’s understandable to feel concerned and want answers. These may be signs of amyloidosis, especially if they affect more than one part of the body. Genetic testing can help diagnose certain forms of amyloidosis.

If you’re diagnosed with amyloidosis by your treating physician, it’s important to find out which type you have. The specific type can help inform treatment. If you have a genetic form of amyloidosis, other family members may be at risk.

The American Heart Association recommends genetic counseling and/or testing for all patients with confirmed or suspected inherited heart 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?

Genetic counseling and testing can help diagnose amyloidosis and determine which type you have. Early diagnosis is important because treatments may be most effective before the disease has progressed.

With this knowledge, you and your care team can:

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Make informed decisions about lifestyle, monitoring, and management.

Explore targeted treatments or clinical trials for amyloidosis.

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Identify whether family members may be at risk.

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.

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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.

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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.

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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.

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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 thousands of patients with suspected or known genetic heart or nerve conditions
  • 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 for amyloidosis, want to understand your family’s health history, or have results and want to understand what they mean for your care and family members, we’re here to help.

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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.

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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.

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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!

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Genome Medical Patient

Frequently Asked Questions

Genetic counselors are healthcare professionals with education focused on medical genetics and counseling. Genetic counselors are specifically trained to:
  • 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

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 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.

After your appointment, your genetic counselor will create an easy-to-understand summary of your discussion. Your visit summary may include medical recommendations based on your personal/family history and any genetic test results. Your test results can be shared with your healthcare team.

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.

The wait time to receive test results depends on the test that is ordered. In many cases, test results will be available in 2-4 weeks.

Genome Medical is a virtual medical practice. All of the platforms we use are HIPAA compliant. Your personal medical information will not be shared with any third party without your direct consent.

Genome Medical is a medical practice specializing in telehealth genetic services. We deliver expert guidance, accelerate diagnoses and improve outcomes for individuals and families with rare conditions. We partner with health systems, life sciences organizations and genetic testing labs and have delivered more than 250,000 genetic counseling sessions across a wide range of clinical specialties.