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Invitae and Alnylam have partnered to offer genetic testing at no charge for individuals who may carry gene mutations known to be associated with primary hyperoxaluria type 1 (PH1).
The Alnylam Act® program was developed to reduce barriers to genetic testing and counseling in order 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.
The primary hyperoxalurias are inherited disorders of glyoxylate metabolism in which hepatic enzyme deficiencies result in excessive endogenous production of oxalate. The excess oxalate cannot be degraded and is excreted in large amounts by the kidneys, resulting in high urinary concentrations.
Most patients with primary hyperoxaluria type 1 present with signs or symptoms related to kidney stones, which are observed in 65% of patients before 10 years of age and in 85% before 20 years of age. Over time, progressive renal damage leads to reduced kidney function. In extreme cases, this reduced function can be evident as early as 4 months of age. In up to 30% of cases, the diagnosis is not confirmed until the patient reaches end-stage renal failure.
The benefits of genetic testing include the ability to:
The Alnylam Act® program offers testing for the 3 genes associated with primary hyperoxaluria:
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To place a paper-based order, download the paper order form.
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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 US. 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 primary hyperoxaluria type 1. For more information, visit www.AlnylamAct.com.