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Metabolic / GeneticsHereditary ATTR Amyloidosis

Alnylam Act® hATTR Amyloidosis

This program provides no-cost TTR gene testing for patients with signs, symptoms, or family history suggestive of hereditary ATTR amyloidosis.

Accessed through the Alnylam Act Sponsored Testing Program•Sponsored by Alnylam Pharmaceuticals•Performed by Prevention Genetics

Designed to help patients understand the purpose of testing and what to expect.

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For patients

What this test and program do

If you or your doctor suspect hereditary ATTR (hATTR) amyloidosis, getting a clear genetic answer can make a real difference. The Alnylam Act program provides TTR gene testing and genetic counseling at absolutely no cost to you, helping confirm or rule out a diagnosis so you and your care team can plan the best path forward. Testing can also help your family members understand whether they may be at risk.

Who this may help

Could this be right for you or your family?

  • To qualify, all of the following must be met:
    • You are 18 years of age or older
    • You meet at least one of the two pathways below:
      • You have at least one of these strong indicators of hATTR amyloidosis:
        • A family history of hATTR amyloidosis
        • Imaging positive for amyloid (such as a technetium scan, cardiac MRI, or strain echo)
        • A biopsy positive for TTR amyloid
      • You have at least two of these signs or symptoms:
        • Nerve problems affecting feeling or movement (nerve pain, altered sensation, numbness and tingling, muscle weakness, poor balance, difficulty walking, carpal tunnel-related nerve problems, abnormal nerve tests)
        • Problems with automatic body functions (nausea and vomiting, changes in digestion, dizziness on standing, sexual dysfunction, bladder problems)
        • Heart problems (cardiomyopathy, a stiff heart, heart thickening, irregular heartbeat, conduction problems, heart failure, abnormal heart imaging)
        • Muscle and joint problems (history of carpal tunnel syndrome, back pain or lumbar spinal stenosis, rotator cuff injury)
        • Kidney problems (reduced kidney function and/or protein in the urine)
        • Eye changes (cloudiness in the eye, glaucoma, dry eyes, amyloid in the eye's blood vessels, detached retina)

What to expect

How the process works

  1. 1

    Talk With Your Provider

    Your provider will review your symptoms and history to confirm whether you qualify for testing.

  2. 2

    Test Is Ordered

    Your provider will place the order online or complete the necessary forms.

  3. 3

    Provide a Sample

    A simple sample will be collected using the kit’s collection tube. Your provider will label it properly and send it to the lab.

  4. 4

    Get Your Results

    Your provider will receive your results in about 3 weeks and will go over them with you and answer any questions.

Cost & coverage

Understanding potential costs

If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.

Quality & privacy

How your sample and information are handled

Testing is performed by Prevention Genetics, a CLIA-certified laboratory (CLIA 52D2065132) and College of American Pathologists (CAP) certified laboratory (CAP 7185561). Your sample is processed using validated methods and quality controls to support reliable genetic results.

Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.

FAQ

Common questions about this program

What is the Alnylam Act genetic testing program for hereditary ATTR amyloidosis?

The Alnylam Act program is a sponsored genetic testing and counseling program for people with suspected hereditary ATTR (hATTR) amyloidosis. It tests the TTR gene, which is the gene responsible for this condition, to help confirm or rule out a genetic diagnosis. The program also includes genetic counseling to help you understand your results and what they mean for you and your family.

Is the Alnylam Act hATTR amyloidosis genetic test really free?

Yes, the Alnylam Act hATTR amyloidosis genetic test is completely free to you. Alnylam Pharmaceuticals covers the full cost of both the genetic testing and the genetic counseling. You will not receive a bill, and there is no copay or deductible to worry about.

What kind of sample is needed for the Alnylam Act hereditary ATTR amyloidosis test?

The Alnylam Act hATTR amyloidosis test can be done using a blood sample, a saliva sample, or a buccal swab (a gentle cheek swab). Your healthcare provider will order a sample collection kit, and together you will choose the option that works best for you. The process is straightforward and can often be done in the clinic or even at home depending on the sample type.

How long does it take to get results from the Alnylam Act hATTR amyloidosis genetic test?

Results from the Alnylam Act hATTR amyloidosis genetic test are typically available within 2 to 3 weeks after the lab receives your sample. Your healthcare provider will share the results with you once they are ready. Genetic counseling is also available to help you understand what the findings mean.

Does the Alnylam Act program include genetic counseling for hereditary ATTR amyloidosis?

Yes, the Alnylam Act program includes genetic counseling at no cost to you along with the TTR gene testing. A genetic counselor can help you understand your test results, explain what a positive or negative result means, and discuss what it could mean for your family members. This support is an important part of the program and is fully covered by the sponsor, Alnylam Pharmaceuticals.

Can the Alnylam Act hATTR amyloidosis test help my family members learn about their risk?

Yes, because hereditary ATTR amyloidosis is a genetic condition caused by changes in the TTR gene, testing one person in a family can provide important information for relatives. If a TTR variant is found, family members may also benefit from testing to learn whether they carry the same variant. Your genetic counselor can help you think through how to share this information with loved ones.

Who qualifies for Alnylam Act Hereditary ATTR Amyloidosis genetic testing?

Patients may qualify for Alnylam Act if they meet the program's eligibility criteria:

  • You may be eligible for testing if you have a family history of hereditary ATTR amyloidosis, a positive heart or amyloid scan, or a biopsy confirming TTR amyloid.
  • You may also qualify if you have two or more symptoms linked to hATTR, such as:
    • Numbness, tingling, neuropathy, or trouble with balance
    • Digestive issues, dizziness when standing, or bladder/sexual dysfunction
    • Heart problems, including thickened heart walls or irregular heartbeat
    • Carpal tunnel, back pain, or shoulder issues
    • Kidney problems or protein in the urine
    • Eye changes such as floaters, glaucoma, or a history of retinal issues

Test details

  • ConditionHereditary ATTR Amyloidosis
  • Test typeTargeted NGS Panel
  • Test code15139
  • Genes / markers
    1
  • Key genes / markersTTR
  • SpecimenWhole blood•Saliva•Buccal swab
  • Turnaround time2-3 Weeks
  • LabPrevention Genetics
  • Program regionUnited States, Canada

Next steps

Share this information with your metabolic specialist or genetic specialist. They can help determine whether this test and program are appropriate for you.

Or ask your doctor to search for this test by name at Prevention Genetics.

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Questions to ask your doctor about Alnylam Act® hATTR Amyloidosis

  1. Do you think this test is appropriate for me based on my symptoms and history?
  2. How could the results of this test change my diagnosis or treatment plan?
  3. What are the potential limitations of this test that I should understand?
  4. Should any of my family members also be tested based on my results?
  5. How will we follow up after the results are available?

Notes

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