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 removes the cost barrier to definitive genetic workup in patients with suspected acute hepatic porphyria (AHP). The program provides a no-charge 10-gene NGS panel along with independent genetic counseling services, enabling diagnostic clarity in a condition where clinical presentation frequently overlaps with other etiologies and biochemical results can be ambiguous between attacks. Ordering carries no prescribing or purchase obligation, and no identifiable patient data is shared 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
Which patients are appropriate for the Alnylam Act acute hepatic porphyria genetic testing program?
The Alnylam Act program is designed for patients in the U.S. who meet the program's clinical eligibility criteria related to suspected or at-risk acute hepatic porphyria. Eligible patients must be pubescent or older. Detailed eligibility criteria are listed separately on the program page, and clinicians can review them before placing an order to confirm patient suitability.
What does the Alnylam Act AHP panel cover and what methodology is used?
The Alnylam Act panel interrogates 10 genes associated with acute hepatic porphyria using next-generation sequencing (NGS). Testing is performed by Prevention Genetics, a CAP/CLIA-accredited laboratory. This breadth of coverage addresses the genetic heterogeneity across AHP subtypes, supporting a comprehensive molecular evaluation in a single test order.
What specimen types are accepted for the Alnylam Act AHP genetic test?
The Alnylam Act program accepts whole blood, saliva, or buccal swab (OCD-100) specimens. Sample collection kits are provided at no charge and can be ordered directly through Prevention Genetics. This flexibility in specimen type supports testing across a range of clinical settings and patient populations.
What is the turnaround time for the Alnylam Act acute hepatic porphyria panel?
The Alnylam Act AHP genetic test has a turnaround time of 2 to 3 weeks from specimen receipt at Prevention Genetics. Results are returned to the ordering clinician, and genetic counseling is available through independent third-party providers at no additional cost to support result interpretation and family communication.
Is there any cost or prescribing obligation when ordering through the Alnylam Act AHP program?
There is no cost to the patient or the ordering clinician for the Alnylam Act AHP genetic test or associated genetic counseling. The program sponsor covers all testing and counseling expenses. Ordering through the program carries no prescribing or purchase obligation of any kind.
How is patient data handled in the Alnylam Act acute hepatic porphyria program?
The Alnylam Act program is structured so that no identifiable patient information is shared with the sponsor. All testing and counseling services are delivered by independent third-party providers. De-identified data may be used for research purposes, but patient privacy protections are maintained throughout the process.
Which patients are eligible for Alnylam Act Acute Hepatic Porphyria genetic testing?
Patients may qualify for Alnylam Act if they meet the program's eligibility criteria:
- 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
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