What is PH1?
PH1 is a progressive genetic disease that is potentially life-threatening and often presents with calcium oxalate kidney stones. Calcium oxalate crystals are insoluble and toxic and lead to serious disease manifestations, including recurrent kidney stones, nephrocalcinosis, progressive renal failure, and multiorgan damage from systemic oxalosis once the disease advances.1-3
What is the role of genetic testing for PH1?
Due to the unpredictable progression of the disease, patients with PH1 may benefit from early and accurate diagnosis. While a healthcare professional will typically use a urine test to measure the urine oxalate excretion level in a diagnostic workup of individuals suspected of primary hyperoxaluria, genetic testing can help confirm a diagnosis of PH1. A genetic test for a mutation in the AGXT gene is a simple way to help confirm a PH1 diagnosis.2,4-6
What is Alnylam Act®?
Alnylam Act® is a sponsored, no-charge genetic testing and counseling program for patients with a family history or suspected diagnosis of PH1. The Alnylam Act® program is designed to reduce barriers to genetic testing and counseling to help people make more informed decisions about their health.
‡To patients, physicians, or payers.
The Invitae Primary Hyperoxaluria Panel tests three genes associated with primary hyperoxaluria: AGXT, GRHPR, and HOGA1.
The Invitae Nephrolithiasis Panel tests 41 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.
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.
Hoppe B. Nat Rev Nephrol. 2012;8(8):467-475.
Milliner DS, Harris PC, Cogal AG, Lieske JC. https://www.ncbi.nlm.nih.gov/books/NBK1283/. Updated November 30, 2017. Accessed October 16, 2019.
Cochat P, Rumsby G. N Engl J Med. 2013;369(7):649-658.
Ben-Shalom E, Frishberg Y. Pediatr Nephrol. 2015;30(10):1781-1791.
Cochat P, Hulton SA, Acquaviva C, et al. Nephrol Dial Transplant. 2012;27(5):1729-1736.
American Urological Association. https://www.auanet.org/guidelines/kidney-stones-medical-mangement-guideline. Published 2014. Accessed October 16, 2019.