Alnylam Acute Hepatic Porphyrias (AHP) Program
Sponsored, no-charge genetic testing and counseling
US and Canada
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
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))
How to order
Our easy-to-order panels align with professional guidelines, making your next steps clear.
Step 1
Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.
To place a paper-based order, complete this order form and fax it to 415-276-4164, or insert the form in the Invitae specimen collection kit before shipment.
For Canadian providers, complete one of the forms below:
Step 2
Collect your patient's specimen using an Invitae collection kit and send with the label provided for free return shipping.
Step 3
Receive results online and access resources to guide your discussion with patient about their results.
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.