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Metabolic / GeneticsAcute Hepatic Porphyria (AHP)

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

This no-charge genetic testing and counseling program identifies variants in the TTR gene for individuals with suspicion of hereditary-ATTR (hATTR) amyloidosis. It supports earlier diagnosis for people with relevant symptoms or family history, helping guide care and family screening. Testing and support are provided at no cost under the sponsored program.

Who this may help

Could this be right for you or your family?

  • 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

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 this program?

The Alnylam Act® program offers no-charge genetic testing and counseling for eligible individuals in the U.S. and Canada who have a suspected or known risk of hereditary ATTR (hATTR) amyloidosis.

Who is eligible for testing?

Patients age 18 + in the U.S. or Canada who meet one of the following:

• Family history of hATTR amyloidosis, or

• Positive imaging consistent with amyloid, or biopsy confirming TTR amyloid.

OR patients who meet at least two of the following: neuropathy symptoms, autonomic dysfunction, cardiac disease, musculoskeletal indicators, renal abnormality or ocular changes. 

What exactly is tested?

The test evaluates the TTR gene for known variants associated with hATTR amyloidosis.

Will I have to pay for the test or counseling?

No. For eligible individuals, both the genetic test and genetic counseling are provided at no cost to you, your provider, or your payer.

What happens after I get the results?

Your healthcare provider will receive the results (typically in ~3 weeks) and will discuss them with you. If you choose, you may also have post-test genetic counseling to review what the result means for you and your family. 

Will my personal information be shared with the program sponsor?

No. While this program is sponsored by Alnylam Pharmaceuticals, your test services and counseling are provided by independent third parties. Only de-identified data may be shared with the sponsor; your identifiable information is not.

Test details

  • ConditionAcute Hepatic Porphyria (AHP)
  • 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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