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Alnylam has partnered with Invitae to offer genetic testing at no charge for individuals who may carry a gene mutation known to be associated with acute hepatic porphyria (AHP).
On average, it takes up to 15 years from symptom onset for a patient to receive a correct diagnosis of AHP.1 The Alnylam Act® program was developed to reduce barriers to genetic testing and counseling 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 receives contact information for health care providers who use this program. Genetic testing is available in the US and Canada. Genetic counseling is only available in the US. Healthcare professionals who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Alnylam product.
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 eight subtypes, and each has unique manifestations, making an accurate diagnosis even more challenging.
Four of these subtypes, a family of diseases referred to as acute hepatic porphyria (AHP), result from a genetic defect leading to deficiency in one of the enzymes of the heme biosynthesis pathway in the liver: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficiency porphyria (ADP).
The Alnylam Act® program offers testing for the 4 genes associated with the acute hepatic porphyrias:
If the test comes back positive, Invitae encourages genetic testing for first-degree relatives of the original patient.
If a family member meets eligibility criteria, order testing through the Alnylam Act program.
Family members who don’t meet eligibility criteria do not currently qualify for testing under the Alnylam Act program. However, Invitae does offer family variant testing (FVT) at no charge to the patient’s first-degree relatives (mother, father, siblings [full and half ], and children). Visit www.invitae.com/family-testing for details. Please note that FVT orders must be placed within 90 days of the original test report date to qualify.
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Available to answer your questions or help you through the testing process.CONTACT
Alnylam is sponsoring no-charge, telephone-based genetic counseling for patients in the U.S. For assistance with genetic counseling or to schedule an appointment, please call InformedDNA, the third-party genetic counseling service, at 888-475-3128.Learn more
Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene tests today.
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.
1Bonkovsky HL et al. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med. 2014 Dec; 127(12):1233-41.