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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 benefit from an early and accurate diagnosis. While a urine test is used to measure the urine oxalate excretion in the workup of people with PH1, it does not confirm a PH1 diagnosis. A genetic test for a mutation in the AGXT gene is a simple way to 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.
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.
‡To patients, physicians, or payers.
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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*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 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 primary hyperoxaluria type 1. For more information, visit www.AlnylamAct.com.