Genetic testing for hereditary ATTR (hATTR) amyloidosis, at no charge

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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 ActTM program was created to potentially enable diagnosis and to provide genetic counseling to help people make more informed decisions about their health. The benefits of genetic testing include the ability to:

  • Tailor care to a patient’s specific needs
  • Help patients enroll in clinical trials
  • Shorten the time to diagnosis
  • Identify risk of disease for family members
  • Connect families with patient advocacy organizations

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 is a multisystemic disease with a heterogeneous clinical presentation that includes sensory and motor, autonomic (e.g. diarrhea, erectile dysfunction, hypotension), and cardiac symptoms. hATTR amyloidosis can lead to significant morbidity, disability, and mortality within 2 to 15 years.

While Alnylam provides financial support for this program, at no time does Alnylam receive patient identifiable information.

Eligibility

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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.

Samples for this program are accepted from the US only.

Signs and symptoms

hATTR amyloidosis is a multisystemic disease with a heterogeneous clinical presentation and is often misdiagnosed due to its constellation of symptoms, which may overlap with other diseases.

Signs and symptoms of hATTR amyloidosis can include:

  • Sensory and 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], erectile dysfunction, bladder dysfunction)
  • Heart disease (e.g., shortness of breath, edema, palpitations and arrhythmias)
  • Carpal tunnel syndrome
  • Generalized fatigue
  • Unintentional weight loss
  • Ocular changes (e.g., blurred vision, blindness)

Genetic testing with Invitae

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

Invitae Cardiomyopathy Comprehensive Panel

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

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Invitae Comprehensive Neuropathies Panel

Testing for up to 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

View test

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 Type, select Partnership / Collaboration
  3. Fill in the required patient information
  4. Under Reason for Testing, enter partner code: TTR
  5. Search for and 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
  6. Under Billing Information, select Institutional Billing and leave all fields blank
  7. Complete the Order Authorization section and submit the order
  8. Fill out, print and sign the symptom checklist form, which includes a required physician consent, and include it with the specimen
To collect a specimen:
  1. Order a specimen collection kit
  2. Label the sample tube with the patient’s full name, date of birth, and sample collection date
  3. Include the signed symptom checklist form with the specimen
  4. For additional information on specimen requirements, please click here
To receive results:
  1. Once Invitae receives the sample, you will receive the results in 10–21 calendar days, 14 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 70-gene Invitae Comprehensive Neuropathies Panel and/or the 50-gene Invitae Cardiomyopathy Comprehensive Panel; Simply log into your account, navigate to the order, and click "Options for more genes”

Client Services

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

CONTACT

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 www.AlnylamAct.com.