Genetic testing for primary hyperoxaluria type 1 (PH1) offered at no-charge

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 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.

  • 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 uses healthcare professional contact information for research and commercial purposes.
  • Genetic testing is available in the US and certain other countries. Genetic counseling is available in the US.
  • Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product.
  • No patients, healthcare professionals, or payers, including government payers, are billed for this program.

‡To patients, physicians, or payers.

Eligibility

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Ordering instructions

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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
  • Children (<2 years old): failure to thrive AND impaired kidney function
  • Children (< 18 years old): nephrolithiasis
  • Adults (≥ 18 years old): recurrent nephrolithiasis 
  • Nephrocalcinosis
  • Systemic tissue/fluid oxalate

Benefits of testing

The benefits of genetic testing include the ability to:

  • Identify risk of disease for patients and their family members
  • Shorten the time to diagnosis and help prevent misdiagnosis
  • Help patients consider clinical trials

Genetic testing with Invitae

The Alnylam Act® program offers testing with either one of the following two panels:

Invitae Primary Hyperoxaluria Panel

The Invitae Primary Hyperoxaluria Panel tests three genes associated with primary hyperoxaluria: AGXT, GRHPR, and HOGA1.

View panel

Invitae Nephrolithiasis Panel

The Invitae Nephrolithiasis Panel tests 35 genes associated with nephrolithiasis, including AGXT, GRHPR, and HOGA1.

View panel

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.

How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.

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. 

2. Submit patient sample

Collect a sample using Invitae’s specimen collection kit (blood, buccal, or saliva). If an Invitae specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

*Note: Invitae offers the ability to send buccal or saliva collection kits directly to patients for at-home collection.

3. Receive results

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. 

Support every step of the way

Client services

Available to answer your questions or help you through the testing process.

CONTACT

Sponsored genetic counseling

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

Confidence begins with quality

  • Commitment to quality: Invitae’s >1000 patient peer-reviewed study, published in the Journal Molecular Diagnostics, the official journal of the Association for Molecular Pathology, shows equivalence to established standards.
  • Sample options: blood and saliva kits provided free of charge.
  • Strong team: Invitae has more than 300 experts in genetics, bioinformatics, engineering, technology, and commercial development.

About Invitae

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.


About Alnylam

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.

References:

  1. Hoppe B. Nat Rev Nephrol. 2012;8(8):467-475.

  2. Milliner DS, Harris PC, Cogal AG, Lieske JC. https://www.ncbi.nlm.nih.gov/books/NBK1283/. Updated November 30, 2017. Accessed October 16, 2019.

  3. Cochat P, Rumsby G. N Engl J Med. 2013;369(7):649-658.

  4. Ben-Shalom E, Frishberg Y. Pediatr Nephrol. 2015;30(10):1781-1791.

  5. Cochat P, Hulton SA, Acquaviva C, et al. Nephrol Dial Transplant. 2012;27(5):1729-1736.

  6. American Urological Association. https://www.auanet.org/guidelines/kidney-stones-medical-mangement-guideline. Published 2014. Accessed October 16, 2019.