Alnylam Act® Acute Hepatic Porphyria

The Alnylam Act program provides no-cost genetic testing and genetic counseling for people who may have acute hepatic porphyria (AHP). AHP is a rare genetic condition that can cause severe attacks of abdominal pain along with other neurological and autonomic symptoms. The program analyzes 10 genes associated with AHP to help clarify whether you carry a genetic change linked to the condition. Testing is performed by Prevention Genetics, an accredited laboratory.

Yes, the Alnylam Act program is completely free to eligible patients. The program's sponsor covers the full cost of both the genetic test and genetic counseling, so there is no charge, no copay, and no bill sent to you or your insurance. You simply need to meet the program's eligibility criteria and have a healthcare provider place the order.

The Alnylam Act program accepts a whole blood sample, a saliva sample, or a buccal swab (a gentle cheek swab). Your healthcare provider will order a free sample collection kit, and the specific sample type can be chosen based on what works best for you. The process is straightforward and can often be done right in your doctor's office.

Results from the Alnylam Act AHP genetic test are typically available in about 2 to 3 weeks after the lab receives your sample. Your healthcare provider will review the results with you and discuss what they mean for your health. The program also includes access to genetic counseling at no cost to help you understand your results.

Yes, the Alnylam Act program includes genetic counseling at no cost to you. Genetic counselors are trained professionals who can help you understand your test results, what they mean for your health, and whether family members might benefit from testing. Counseling services are provided through independent third-party providers, and your identifiable personal information is not shared beyond what is needed for your care.

Acute hepatic porphyria is a rare condition, and its symptoms, such as severe abdominal pain and neurological issues, can overlap with many other conditions, making it hard to diagnose. A genetic test through the Alnylam Act program looks at 10 genes linked to AHP and can help confirm or rule out a genetic cause. Having a clear diagnosis can speed up your path to appropriate care and also let family members know if they might be at risk.

Patients may qualify for Alnylam Act if they meet the program's eligibility criteria:

• 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