Alnylam Act® Primary Hyperoxaluria Type 1 Program
Sponsored, no-charge genetic testing and counseling
US and Canada
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 can 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 and may help avoid the need for an invasive liver biopsy to determine enzyme activity. A genetic test for mutations in the AGXT gene is a simple way to help confirm a PH1 diagnosis.2,4-6
Increasing access to genetic testing and counseling
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 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
Program eligibility
To be eligible for the Alnylam Act® PH1 program, patients must have a family history or suspected diagnosis of primary hyperoxaluria with one or more of the following symptoms:
Family history of primary hyperoxaluria
Or, adult (18 years or older) with either elevated urinary oxalate OR elevated plasma oxalate
Or, child (less than 18 years old) with one of the following:
- Failure to thrive and impaired kidney function
- Nephrolithiasis
- Nephrocalcinosis
- Elevated urinary oxalate OR elevated plasma oxalate
How to order
Our easy-to-order panels align with professional guidelines, making your next steps clear.
Step 1
Determine eligibility, select your test, and place your order via our convenient online portal.
To place your paper-based order, complete the Invitae paper order form for Alnylam Act® PH1 and fax it to 415-276-4164, or insert the form in the Invitae specimen collection kit before shipment.
For Canadian providers, complete one of the forms below:
Step 2
Collect your patient’s specimen using an Invitae collection kit (blood, buccal, or saliva) and then use the label provided for free return shipping.* Specimen and shipping requirements depend on the specimen and test type. Please review both before sending in your patient’s sample. Invitae can send buccal or saliva collection kits directly to patients for at-home collection.
For paper-based orders, request a kit here.
Step 3
Receive results online and discuss with your patients. On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order.
Genetic counseling services
Individuals in the US and Canada tested through the Alnylam Act® program are eligible for post-test genetic counseling to help them understand their test results. This service is made available by Invitae at no charge as part of the program. Patients can access genetic counseling by using an online scheduling option or by contacting Invitae Client Services at 1-800-436-3037 and asking to schedule a genetic counseling appointment.