Hereditary ATTR (hATTR) Amyloidosis Program
Sponsored, no-charge genetic testing and counseling
US and Canada
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
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)
How to order
Our easy-to-order panels align with professional guidelines1,2, making your next steps clear.
Step 1
Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.
To place a paper-based order, complete this order form and fax it to 415-276-4164, or insert the form in the Invitae specimen collection kit before shipment.
For Canadian providers, complete one of the forms below:
Step 2
Collect your patient's specimen using an Invitae collection kit and send with the label provided for free return shipping.
Step 3
Receive results online and access resources to guide your discussion with patient about their results.
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.