Alnylam Acute Hepatic Porphyrias (AHP) Program

Sponsored, no-charge genetic testing and counseling
US and Canada

AHP logo

What is porphyria?

Porphyria is a family of rare, genetic diseases characterized by potentially life-threatening attacks and, for some patients, chronic debilitating symptoms that negatively impact daily functioning and quality of life. Porphyria includes several subtypes, and each has unique manifestations, making an accurate diagnosis even more challenging.

The four types of acute hepatic porphyria (AHP) are acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficiency porphyria (ADP). These four types result from a genetic defect leading to a deficiency in one of the enzymes of the heme biosynthesis pathway in the liver.

The Alnylam Act® program was created to provide access to genetic testing and counseling to patients as a way to help people make more informed decisions about their health.

  • While Alnylam provides financial support for this program, tests and services are performed by independent third parties
  • Healthcare professionals must confirm that patients meet certain criteria to use the program
  • Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient-identifiable information. Alnylam may use healthcare professional contact information for research purposes
  • Both genetic testing and genetic counseling are available in the U.S. and Canada
  • Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product
  • No patients, healthcare professionals, or payers, including government payers, are billed for this program

The benefits of genetic testing may include the ability to:

Identify risk of disease for patients and their family members


Shorten the time to diagnosis and help prevent misdiagnosis


Help patients consider clinical trials


Program eligibility

To be eligible for the Alnylam Acute Hepatic Porphyrias (AHP) program, patients in the US and Canada must be pubescent or older and meet at least one of the following criteria:

  • Family history of acute hepatic porphyria

    Or elevated (> upper limit of normal) urinary porphobilinogen (PBG) or aminolevulinic acid (ALA) levels

  • Or unexplained recurrent (more than one), prolonged (>24 hours) episodes of severe, diffuse (poorly localized) abdominal pain

    And at least TWO of the following:

    • Red to brownish urine
    • Blistering skin lesions on sun-exposed areas
    • Peripheral nervous system manifestations occurring around the time of abdominal pain (i.e., motor neuropathy (paresis), sensory neuropathy (numbness, tingling, limb pain))
    • Central nervous system manifestations occurring around the time of abdominal pain (i.e., confusion, anxiety, seizures, hallucinations)
    • Autonomic nervous system manifestations occurring around the time of abdominal pain (i.e., hyponatremia (Na in the blood < lower limit of normal, tachycardia, hypertension, nausea and vomiting, constipation))

Test options

This program offers testing with the following panel. Learn more about the panels in our test catalog before placing your order on this program page.

How to order

Our easy-to-order panels align with professional guidelines, making your next steps clear.

Next steps and additional services

Woman smiling while providing genetic expert support

Genetic counseling services

Individuals in the US and Canada tested through the Alnylam Act® program are eligible for post-test genetic counseling to help them understand their test results. This service is made available by Invitae at no charge as part of the program. Patients can access genetic counseling by using an online scheduling option or by contacting Invitae Client Services at 1-800-436-3037 and asking to schedule a genetic counseling appointment.

About Alnylam
Alnylam is leading the translation of RNAi as a new class of innovative medicines, with a core focus on RNAi therapeutics toward genetically defined targets for the treatment of serious, life-threatening diseases. RNAi therapeutics offer a modular and reproducible approach for development and commercialization of innovative medicines. Alnylam is sponsoring no-charge, third-party genetic testing and counseling for individuals who may carry gene mutations known to be associated with acute hepatic porphyria. For more information, visit www.AlnylamAct.com.

This is a sponsored testing program. While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified (pseudonymized) patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing and counseling are available in the US and Canada. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Invitae or from third parties or commercial organizations.

The Alnylam Act® program was created to provide access to genetic testing and counseling to patients as a way to help people make more informed decisions about their health. While Alnylam provides financial support for this program, tests and services are performed by independent third parties. Healthcare professionals must confirm that patients meet certain criteria to use the program. Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient-identifiable information. Alnylam may use healthcare professional contact information for research purposes. Both genetic testing and genetic counseling are available in the US and Canada. Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product. No patients, healthcare professionals, or payers, including government payers, are billed for this program.

Alnylam Act and its associated logo are trademarks of Alnylam Pharmaceuticals, Inc. © 2023 Alnylam Pharmaceuticals, Inc. All rights reserved.