Hereditary ATTR (hATTR) amyloidosis

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No-charge genetic testing for hATTR amyloidosis

Invitae and Alnylam have partnered to offer genetic testing at no charge for individuals who may carry a gene mutation known to be associated with hereditary ATTR (hATTR) amyloidosis. The Alnylam Act® program was developed to reduce barriers to genetic testing and counseling to help people make more informed decisions about their health. The benefits of genetic testing include the ability to:

  • Identify risk of disease for patients and their family members
  • Shorten the time to diagnosis and prevent misdiagnoses
  • Help patients consider clinical trials

Hereditary ATTR amyloidosis (hATTR amyloidosis) is an inherited, rapidly progressive, life-threatening disease. It is caused by a mutation in the transthyretin (TTR) gene that results in misfolded TTR proteins accumulating as amyloid fibrils in multiple tissues including the nerves, heart, and gastrointestinal tract. hATTR amyloidosis can lead to significant morbidity, disability, and mortality, with a median survival of 4.7 years following a diagnosis.

While Alnylam provides financial support for this program, tests and services are performed by independent third parties. Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient identifiable information. Alnylam receives contact information for healthcare professionals who use this program. Healthcare professionals who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Alnylam product.


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Ordering instructions

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Program eligibility

Patients 18 years and older with a suspected diagnosis or a confirmed family history of hATTR amyloidosis are invited to take part in the Alnylam Act® program. Healthcare professionals must confirm that patients meet certain criteria to use the program.

Samples for this program are accepted from the US and Canada only.

Signs and symptoms

hATTR amyloidosis is a multisystemic disease with a heterogeneous clinical presentation that includes sensory and motor, autonomic (e.g., diarrhea, sexual dysfunction, hypotension), and cardiac symptoms.

Signs and symptoms of hATTR amyloidosis can include:

  • Sensory and/or motor neuropathy (e.g., neuropathic pain, alternation sensation [sensitivity to pain and temperature], numbness and tingling, muscle weakness, impaired balance, difficulty walking)
  • Autonomic dysfunction (e.g., nausea and vomiting, changes in GI motility [diarrhea, constipation, gastroparesis, early satiety], orthostatic hypotension [fainting and dizziness upon standing], sexual dysfunction, bladder dysfunction)
  • Heart disease (e.g., shortness of breath, edema, palpitations, arrhythmias, conduction abnormalities, heart failure, abnormal cardiac imaging [echo, MRI, or technetium])
  • Bilateral carpal tunnel syndrome
  • Spinal stenosis or spinal radiculopathy
  • Ocular changes (e.g., blurred vision, blindness, dry eyes, glaucoma, visual field abnormalities, retinal detachment)
  • Biopsy positive for amyloid

Genetic testing with Invitae

The Alnylam Act® program offers testing with one of the following three options:

Invitae Cardiomyopathy Comprehensive Panel

Testing for ~50 genes associated with inherited cardiomyopathy conditions, including hATTR amyloidosis

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Invitae Comprehensive Neuropathies Panel

Testing for ~70 genes that cause dominant, recessive, and X-linked hereditary neuropathies, including hATTR amyloidosis

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Invitae Transthyretin Amyloidosis Test

Single-gene genetic testing for the TTR gene, which is associated with hATTR amyloidosis

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Ordering made easy

Place your order Collect a sample Results

To place a paper-based order, download the paper order form.

To place an order online:

  1. Sign up for an account and start a new order
  2. Under Test Selection, click on the Partnership Programs tab and enter TTR in the Invitae Partner Code field
  3. Use the search bar to select one of the following three tests: Invitae Cardiomyopathy Comprehensive Panel
    Invitae Comprehensive Neuropathies Panel
    Invitae Transthyretin Amyloidosis Test
    Note: Add-on genes are not available as part of this program and will be removed from the order if selected
  4. Fill in the required patient information
  5. Under Billing Information, select Institutional Billing and leave all fields blank
  6. Complete the Order Authorization section and submit the order
  7. Fill out, print and sign the eligibility criteria form, which includes a required physician consent, and include it with the specimen
To collect a specimen:
  1. Order a specimen collection kit (blood or saliva)
  2. Collect the specimen and ship it back to Invitae
  3. Include the signed eligibility criteria form with the specimen
  4. For additional information, please see specimen and shipping requirements
To receive results:
  1. Once Invitae receives the sample, you will receive the results in 10–21 calendar days, on average
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready
  4. If you don’t find answers with your initial order, the Alnylam Act® program includes one re-requisition within 90 days to the Invitae Comprehensive Neuropathies Panel and/or the Invitae Cardiomyopathy Comprehensive Panel; Simply log into your account, navigate to the order, and click "Options for more genes”

Support every step of the way

Client services

Available to answer your questions or help you through the testing process.


Sponsored genetic counseling

Alnylam is sponsoring no-charge, telephone-based genetic counseling for patients in the U.S. For assistance with genetic counseling or to schedule an appointment, please call InformedDNA, the third-party genetic counseling service, at 888-475-3128.

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Confidence begins with quality

  • Commitment to quality: Invitae’s >1000 patient peer-reviewed study, published in the Journal Molecular Diagnostics, the official journal of the Association for Molecular Pathology, shows equivalence to established standards.
  • Quick turnaround: results available within 10–21 calendar days, 14 days on average.
  • Sample options: blood and saliva kits provided free of charge.
  • Strong team: Invitae has more than 300 experts in genetics, bioinformatics, engineering, technology, and commercial development including board-certified medical geneticists with experience in diagnosing biochemical and molecular causes of epilepsy.

About Invitae

Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene tests today.

About Alnylam

Alnylam is leading the translation of RNAi as a new class of innovative medicines, with a core focus on RNAi therapeutics toward genetically defined targets for the treatment of serious, life-threatening diseases with limited treatment options for patients and their caregivers. RNAi therapeutics offer a modular and reproducible approach for development and commercialization of innovative medicines. Alnylam is sponsoring no-charge, third-party genetic testing and counseling for individuals who may carry a gene mutation known to be associated with hereditary ATTR (hATTR) amyloidosis. For more information, visit