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 often fatal 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.

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 Canada. Genetic counseling is only 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 payers, including government payers, are billed for this program.

Eligibility

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Tests

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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

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 from Puerto Rico, please download this 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 Hereditary Transthyretin-Mediated Amyloidosis (hATTR 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 (please note that there is a separate eligibility criteria form for Puerto Rico)
  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.

CONTACT

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 www.invitae.com.

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.