Alnylam Act® Acute Hepatic Porphyria
Targeted genetic panel of 10 genes for acute hepatic porphyria (AHP), designed to help confirm diagnosis and inform clinical management.
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
The Alnylam Act® program supports eligible patients in the U.S. and Canada with no-cost access to genetic testing and counseling for acute hepatic porphyria (AHP), facilitating diagnostic clarity in this rare metabolic condition. Services are delivered by independent third-party providers and governed under a strict policy of de-identified data sharing for research purposes.
When to consider this test
Patient selection
- Patients in the U.S. or Canada, pubescent or older, who meet at least one of the following:
- Documented family history of acute hepatic porphyria (AHP)
- Elevated urinary porphobilinogen (PBG) or aminolevulinic acid (ALA) above the upper limit of normal
- Recurrent (>1), prolonged (>24 hours) episodes of severe, diffuse abdominal pain without another clear cause
- And at least two of the following signs or symptoms occurring around the time of abdominal pain:
- Red or brown urine
- Blistering skin lesions on sun-exposed areas
- Peripheral neurologic manifestations (e.g., motor paresis, sensory neuropathy, limb pain)
- Central neurologic manifestations (e.g., confusion, anxiety, seizures, hallucinations)
- Autonomic findings, including hyponatremia, tachycardia, hypertension, nausea/vomiting, or constipation
Workflow
How to use this program
- 1
Confirm eligibility
Review the eligibility criteria provided and verify that your patient meets the requirements before ordering.
- 2
Start Your Order
Order the test to support diagnostic clarification and next-step decision-making.
- 3
Submit Patient Sample
Collect and submit a sample using one of PreventionGenetics' test kits.
- 4
Review Results
Receive results in 3-4 weeks, on average.
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
What does this program cover?
The Alnylam Act® AHP Sponsored Testing Program enables you to order complimentary genetic testing and counseling for eligible patients with suspected acute hepatic porphyria through PreventionGenetics.
What are the eligibility criteria for patients?
Patients must be pubescent or older (US/Canada) and meet at least one of the following: family history of AHP; elevated urinary PBG or ALA; OR unexplained recurrent/prolonged abdominal pain >24 hours plus at least two of: red/brown urine, blistering skin lesions, peripheral neuropathy, central nervous system symptoms, autonomic findings.
How do I order the test?
Place the order through the online portal at PreventionGenetics, or using the test requisition form. You may also request specimen collection kits for your patient to collect at home (blood, saliva or buccal).
What turnaround time can I expect?
Results are generally returned in about 2–3 weeks after receipt of the specimen and all required paperwork.
Are there family follow-up considerations?
Yes. If a likely pathogenic or pathogenic variant is identified, gene-specific family follow-up testing is available at no additional charge—relatives do not need to meet the program’s initial eligibility criteria.
What about cost billing?
There is no cost to the patient, provider or payer for this program. Do not seek reimbursement from third-party payers for the sponsored testing service.
Are there data/privacy considerations?
Yes. While the program is funded by the sponsor, all services are performed by independent third parties. Identifiable patient data is not shared with the sponsor; only de-identified data may be used for research or aggregated reporting.
See an issue with this program?