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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.
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 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.
The Alnylam Act® program offers testing for the 4 genes associated with acute hepatic porphyria:
If the test comes back positive, Invitae offers genetic testing for all blood relatives of the original patient.
If a family member meets eligibility criteria, consider ordering the test 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 all of the original patient's blood relatives. 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 Corporation is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices.
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.