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 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.

  • 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 Canada. Genetic counseling is only 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 payers, including government payers, are billed for this program.

‡To patients, physicians, or payers.

What is primary hyperoxaluria type 1?

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

  1. Hoppe B, Beck BB, Milliner DSD.  The primary hyperoxalurias. Kidney Int. 2009;75:1264-71.
  2. Edvardsson VO, Goldfarb DS, Lieske JC et al. Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol. 2013;28:1923-42.

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 prevent misdiagnoses
  • 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.

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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.

Ordering made easy

Place your order Collect a sample Results

To place a paper-based order, download the paper order form.

To place an order online:

  1. Sign up for an account and start a new order
  2. Under Test Selection, select the Partnership Programs tab and enter PH1 in the Invitae Partner Code field
  3. Use the search bar to select either the Primary Hyperoxaluria Panel or the Nephrolithiasis Panel
  4. Fill in the required patient information
  5. Under Billing Information, select Institutional Billing and leave all fields blank
  6. Complete the Order Authorization section and submit the order
  7. Fill out, print and sign the eligibility criteria form, which includes a required physician consent, and include it with the specimen
To collect a specimen:
  1. Order a specimen collection kit (blood or saliva)*

  2. Collect the specimen and ship it back to Invitae

  3. Include the signed eligibility criteria form with the specimen

  4. For additional information, see specimen and shipping requirements
To receive results:
  1. Once Invitae receives the sample, you will receive the results in 10–21 calendar days, on average

  2. If you created an online account, you can view the status of your order by logging into your account

  3. You will receive a notification email once the test results are ready

*Blood, saliva, and assisted saliva samples are accepted; DNA samples are not accepted for this program.

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.

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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 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.


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.