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 may 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, debilitating, and fatal disease. It is caused by a variant 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.

The Alnylam Act® program was created to provide access to genetic testing and counseling to patients as a way to help people make more informed decisions about their health.

  • While Alnylam provides financial support for this program, tests and services are performed by independent third parties.
  • Healthcare professionals must confirm that patients meet certain criteria to use the program.
  • Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient-identifiable information. Alnylam uses healthcare professional contact information for research and commercial purposes.
  • Genetic testing is available in the US and certain other countries. Genetic counseling is available in the US.
  • Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product.
  • No patients, healthcare professionals, or payers, including government payers, are billed for this program.


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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 ~80 genes associated with inherited cardiomyopathy conditions, including hATTR amyloidosis

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Invitae Comprehensive Neuropathies Panel

Testing for ~100 genes that cause dominant, recessive, and X-linked hereditary neuropathies, including hATTR amyloidosis

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Invitae Transthyretin-mediated Amyloidosis (hATTR Amyloidosis) Test

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

View test

How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.

To place your paper-based order, complete the Invitae paper order form for Alnylam Act® hATTR, and fax it to 415-276-4164, or insert the form in the Invitae specimen collection kit before shipment. 

2. Submit patient sample

Collect a sample using Invitae’s specimen collection kit (blood, buccal, or saliva). If an Invitae specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

*Note: Invitae offers the ability to send buccal or saliva collection kits directly to patients for at-home collection.

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

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 Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit

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