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Alnylam has partnered with Invitae 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 accumulation of oxalate and progressive kidney disease.1
Most patients with primary hyperoxaluria present with signs or symptoms related to kidney stones, which are observed in 65% of patients before 10 years of age and in up to 80% before 20 years of age.2
The Invitae Primary Hyperoxaluria Panel tests three genes associated with primary hyperoxaluria: AGXT, GRHPR, and HOGA1.
The Invitae Nephrolithiasis Panel tests 35 genes associated with nephrolithiasis, including AGXT, GRHPR, and HOGA1.
Please note: this program does not offer the ability to re-requisition to another panel. Please be sure to select the panel that is most appropriate for your patient.
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To place a paper-based order, download the paper order form.
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*Blood, saliva, and assisted saliva samples are accepted; DNA samples are not accepted for this program.
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.