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 help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
The Alnylam Act® program offers no-charge genetic testing and counseling for individuals in the U.S. and Canada who meet the criteria for acute hepatic porphyria (AHP). Genetic testing can help clarify a diagnosis of AHP, a rare genetic condition marked by episodic attacks and chronic effects, speeding the path to tailored care. All services are provided through independent third-party providers, and no identifiable patient information is shared.
Who this may help
Could this be right for you or your family?
- Patients in the U.S. and Canada who are pubescent or older and have at least one of the following:
- A family history of acute hepatic porphyria
- Elevated urinary PBG or ALA levels
- More than one episode of severe abdominal pain lasting over 24 hours
- And at least two of the following symptoms:
- Red or brown urine
- Blistering skin lesions on sun-exposed areas
- Numbness, tingling, limb pain, or muscle weakness around the time of abdominal pain
- Confusion, anxiety, seizures, or hallucinations around the time of abdominal pain
- Nausea, vomiting, constipation, or findings such as low sodium, rapid heartbeat, or high blood pressure during episodes
What to expect
How the process works
- 1
Check if you qualify
Review the eligibility information on this page to see whether this sponsored test may be appropriate for you based on your symptoms and medical history.
- 2
Talk with your doctor
Discuss your symptoms and history with your doctor. If the test is appropriate, your doctor will place the order and guide you through the next steps.
- 3
Provide your sample
If your doctor orders the test, a simple sample—such as blood or a cheek swab—is collected and sent to the laboratory for analysis.
- 4
Review your results
Your doctor will receive the results, typically within a few weeks, and will explain what they mean and how they may guide your care.
Cost & coverage
Understanding potential costs
If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.
Quality & privacy
How your sample and information are handled
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
Common questions about this program
What is this testing program?
This no-charge genetic testing and counseling program is offered for individuals with suspected or confirmed acute hepatic porphyria (AHP) who meet eligibility criteria.
Who is eligible for this program?
Patients who are pubescent or older in the US or Canada and meet one of the following: family history of AHP, elevated urinary PBG or ALA, OR unexplained recurrent, prolonged abdominal pain + at least two additional symptoms (e.g., red/brown urine, skin blistering, neuropathy, CNS symptoms, autonomic signs).
Which genes are tested?
The panel covers ten genes associated with AHP (including HMBS, CPOX, PPOX, ALAD) and related porphyrias.
Will I have to pay for the test?
No. The genetic testing and genetic counseling services under the Alnylam Act® AHP program are provided at no cost to eligible patients, providers or payers.
How do I get started?
Ask your healthcare provider about the program and whether you meet eligibility. If eligible, they will order the test through PreventionGenetics and you’ll provide a sample (blood, saliva or buccal) and receive results in about 2–3 weeks.
What happens after I get my results?
Your provider will review the results with you. Genetic counseling is available before and/or after testing (via a partner service) at no cost. If a pathogenic variant is found, family members may also consider follow-up testing.
Will my data be shared?
The program uses de-identified patient data for research and reporting purposes; identifiable patient information is not shared with the sponsor.
Questions to ask your doctor about Alnylam Act® Acute Hepatic Porphyria
- Do you think this test is appropriate for me based on my symptoms and history?
- How could the results of this test change my diagnosis or treatment plan?
- What are the potential limitations of this test that I should understand?
- Should any of my family members also be tested based on my results?
- How will we follow up after the results are available?
Notes
See an issue with this program?