Hereditary ATTR (hATTR) Amyloidosis Program

Sponsored, no-charge genetic testing and counseling
US and Canada

hATTR

What is hereditary ATTR amyloidosis (hATTR amyloidosis) ?

Hereditary ATTR amyloidosis (hATTR amyloidosis) is an inherited, rapidly progressive, debilitating, and often 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.

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


Signs and symptoms of hATTR amyloidosis can include:

  • Positive imaging consistent with amyloid (technetium, CMR, strain echo)
  • Positive biopsy for TTR amyloid
  • Sensory and/or motor neuropathy (e.g., neuropathic pain, altered sensation, numbness and tingling, muscle weakness, impaired balance, difficulty walking, carpal tunnel syndrome-associated neuropathy, EMG/NCS abnormalities)
  • Autonomic dysfunction (e.g., nausea and vomiting, changes in GI motility, orthostatic hypotension, sexual dysfunction, bladder dysfunction)
  • Heart disease (e.g., cardiomyopathy, restrictive physiology, hypertrophy, arrhythmias, conduction abnormalities, heart failure, abnormal cardiac imaging)
  • Musculoskeletal indicators (e.g., history of carpal tunnel syndrome, back pain/lumbar spinal stenosis, rotator cuff injury)
  • Renal abnormalities (e.g., renal insufficiency and/or proteinuria)
  • Ocular changes (e.g., vitreous opacity, glaucoma, dry eyes, ocular amyloid angiopathy, retinal detachment)


    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 may use healthcare professional contact information for research purposes
  • Both genetic testing and genetic counseling are available in the U.S. and Canada
  • 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

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


Program eligibility

To be eligible for the Hereditary ATTR (hATTR) amyloidosis program, patients in the US or Canada must be 18 years of age or older, and must meet the criteria below

  • Patients with at least one hATTR high index of suspicion indicators (below) are eligible for testing

    • Family history of hATTR amyloidosis
    • Positive imaging consistent with amyloid (technetium, CMR, strain echo)
    • Positive biopsy for TTR amyloid
  • Or, Patients with at least two hATTR index of suspicion indicators (below) are eligible for testing

    • Sensory and/or motor neuropathy (e.g., neuropathic pain, altered sensation, numbness and tingling, muscle weakness, impaired balance, difficulty walking, carpal tunnel syndrome-associated neuropathy, EMG/NCS abnormalities)
    • Autonomic dysfunction (e.g., nausea and vomiting, changes in GI motility, orthostatic hypotension, sexual dysfunction, bladder dysfunction)
    • Heart disease (e.g., cardiomyopathy, restrictive physiology, hypertrophy, arrhythmias, conduction abnormalities, heart failure, abnormal cardiac imaging)
    • Musculoskeletal indicators (e.g., history of carpal tunnel syndrome, back pain/lumbar spinal stenosis, rotator cuff injury)
    • Renal abnormalities (e.g., renal insufficiency and/or proteinuria)
    • Ocular changes (e.g., vitreous opacity, glaucoma, dry eyes, ocular amyloid angiopathy, retinal detachment)

Test options

This program offers testing with the following panels. Learn more about the panels in our test catalog before placing your order on this program page.

How to order

Our easy-to-order panels align with professional guidelines1,2, making your next steps clear.

Next steps and additional services

Woman smiling while providing genetic expert support

Genetic counseling services

Individuals in the US and Canada tested through the Alnylam Act® program are eligible for post-test genetic counseling to help them understand their test results. This service is made available by Invitae at no charge as part of the program. Patients can access genetic counseling by using an online scheduling option or by contacting Invitae Client Services at 1-800-436-3037 and asking to schedule a genetic counseling appointment.

References

1. Grandis, M., Obici, L., Luigetti, M. et al. Recommendations for presymptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus. Orphanet J Rare Dis 15, 348 (2020). https://doi.org/10.1186/s13023-020-01633-z
2. Adams D et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. Journal of Neurology (2021) 268:2109–2122. https://doi.org/10.1007/s00415-019-09688-0


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 may use healthcare professional contact information for research purposes. Both genetic testing and genetic counseling are available in the US and Canada. 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.