Alnylam Act® hATTR Amyloidosis
This program provides no-cost TTR gene testing for patients with signs, symptoms, or family history suggestive of hereditary ATTR amyloidosis.
Accessed through the Alnylam Act Sponsored Testing Program•Sponsored by Alnylam Pharmaceuticals•Performed by Prevention Genetics
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
Alnylam Act provides no-cost NGS-based TTR gene testing and genetic counseling for patients with suspected hATTR amyloidosis. The program supports timely molecular confirmation or exclusion of a hereditary etiology, facilitates cascade screening of at-risk family members, and helps align management decisions with genotype. All costs are covered by Alnylam Pharmaceuticals, with testing performed by Prevention Genetics. Ordering carries no prescribing or purchase obligation.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Patient is 18 years of age or older
- Meets at least one of the following pathways:
- At least one high index-of-suspicion indicator:
- Family history of hATTR amyloidosis
- Positive imaging consistent with amyloid (technetium, CMR, strain echo)
- Positive biopsy for TTR amyloid
- At least two index-of-suspicion indicators:
- 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)
Workflow
How to use this program
- 1
Confirm Eligibility
Review the patient’s history and clinical indicators to determine eligibility and discuss testing.
- 2
Order the Test
Submit the order through the online portal or complete the test requisition form.
- 3
Collect the Specimen
Collect the sample using the supplied collection tube. Label the specimen with at least two identifiers (name, DOB, or patient ID). Specimens are accepted Monday–Saturday; holiday schedules are posted one week in advance.
- 4
Receive and Review Results
PreventionGenetics processes the test and returns results to you in about 3 weeks once the sample and paperwork are received. Review results with the patient or caregiver.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
Testing is performed by Prevention Genetics, a CLIA-certified laboratory (CLIA 52D2065132) and College of American Pathologists (CAP) certified laboratory (CAP 7185561). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Frequently asked questions
Which patients are appropriate for the Alnylam Act hATTR amyloidosis genetic testing program?
The Alnylam Act program is intended for patients with clinical suspicion of hereditary ATTR amyloidosis who meet the program's eligibility criteria. Referral is appropriate when the clinical picture raises concern for a TTR-mediated amyloid process and molecular confirmation would inform management or enable family risk assessment. Detailed eligibility criteria are listed separately on the program page.
What does the Alnylam Act hATTR amyloidosis test cover and what methodology is used?
The Alnylam Act hATTR amyloidosis test is a single-gene NGS analysis of the TTR gene performed by Prevention Genetics. It is designed to identify pathogenic and likely pathogenic variants associated with hereditary ATTR amyloidosis. The focused single-gene approach supports a rapid, targeted molecular evaluation in patients with clinical suspicion.
What specimen types are accepted for the Alnylam Act hATTR amyloidosis test?
The Alnylam Act hATTR amyloidosis program accepts whole blood, saliva, or buccal swab specimens. Sample collection kits are provided at no charge after an order is placed through Prevention Genetics. This flexibility in specimen type can simplify logistics, particularly for patients seen in non-hospital settings.
What is the turnaround time for the Alnylam Act hATTR amyloidosis genetic test?
The turnaround time for the Alnylam Act hATTR amyloidosis test is 2 to 3 weeks from sample receipt at Prevention Genetics. Results are returned to the ordering clinician and genetic counseling is available to support result interpretation and family follow-up, all at no cost under the program.
Is there any cost or prescribing obligation associated with ordering the Alnylam Act hATTR amyloidosis test?
There is no cost to the patient, the ordering provider, or the payer for the Alnylam Act hATTR amyloidosis genetic test and counseling. Alnylam Pharmaceuticals fully sponsors the program. Ordering the test carries no prescribing or purchase obligation of any kind.
Does the Alnylam Act hATTR amyloidosis program include genetic counseling services?
Yes, the Alnylam Act program includes genetic counseling as part of the sponsored service at no additional cost. Counseling supports pre-test patient preparation, post-test result interpretation, and family risk assessment discussions. This can be particularly valuable for coordinating cascade testing among at-risk relatives when a pathogenic TTR variant is identified.
Which patients are eligible for Alnylam Act Hereditary ATTR Amyloidosis genetic testing?
Patients may qualify for Alnylam Act if they meet the program's eligibility criteria:
- Patient has ≥1 high index of suspicion indicator for hereditary ATTR amyloidosis:
- Family history of hATTR
- Positive imaging consistent with amyloid (technetium, CMR, strain echo)
- Positive biopsy confirming TTR amyloid
- OR patient has ≥2 clinical indicators suggestive of hATTR:
- Sensory or motor neuropathy (neuropathic pain, altered sensation, weakness, gait issues, carpal tunnel, EMG/NCS abnormalities)
- Autonomic dysfunction (GI motility changes, orthostatic hypotension, sexual or bladder dysfunction)
- Cardiac findings (cardiomyopathy, restrictive physiology, hypertrophy, arrhythmia, conduction issues, heart failure, abnormal imaging)
- Musculoskeletal indicators (carpal tunnel history, lumbar spinal stenosis, rotator cuff injury, chronic back pain)
- Renal abnormalities (renal insufficiency or proteinuria)
- Ocular changes (vitreous opacity, glaucoma, dry eyes, retinal issues, ocular amyloid angiopathy)
See an issue with this program?