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Nephrology / UrologyPrimary Hyperoxaluria Type 1 (PH1)

Alnylam Act® Primary Hyperoxaluria Type 1 (3 genes)

No-charge genetic testing of three PH-genes for individuals with suspected or family-history of primary hyperoxaluria type 1 (PH1).

Accessed through the Alnylam Act Sponsored Testing Program•Sponsored by Alnylam Pharmaceuticals•Performed by Prevention Genetics

Designed to support clinical decision-making and ordering in your practice.

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For healthcare providers

Overview

The Alnylam Act® program offers complimentary gene‐panel testing and genetic counseling for patients with suspected PH1 (AGXT, GRHPR, HOGA1). The program supports you in confirming diagnosis, guiding patient care and referral, and facilitating family risk assessment. All testing and counseling services are provided at no cost to patients, providers, or payers.

When to consider this test

Patient selection

  • Patient has a family history of Primary Hyperoxaluria (PH1) or clinical suspicion of PH1.
  • Adults (18+) with elevated urinary oxalate or elevated plasma oxalate.
  • Children (<18) with failure to thrive and impaired kidney function.
  • Children (<18) with nephrolithiasis or nephrocalcinosis.
  • Children (<18) with elevated urinary or plasma oxalate.

Workflow

How to use this program

  1. 1

    Confirm Patient Eligibility

    Review clinical indicators and family history to confirm eligibility and discuss testing needs.

  2. 2

    Submit the Test Order

    Place the order through the online portal or complete the test requisition form.

  3. 3

    Collect and Label Specimen

    Collect the sample and label it with two identifiers. Specimens are accepted Monday–Saturday; holiday schedules are posted in advance.

  4. 4

    Review Test Results

    PreventionGenetics returns results in about 3 weeks. Review findings with the patient or caregiver.

Billing overview

Program billing

For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.

Quality & privacy

Laboratory quality & data handling

Testing is performed by Prevention Genetics, a CLIA-certified laboratory (CLIA 52D2065132) and College of American Pathologists (CAP) certified laboratory (CAP 7185561). Your sample is processed using validated methods and quality controls to support reliable genetic results.

Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.

FAQ

Frequently asked questions

What does this program cover?

The Alnylam Act program allows you to order no-cost genetic testing (AGXT, GRHPR, HOGA1) and genetic counseling for eligible patients with suspected or confirmed PH1.

What are the eligibility criteria for ordering this test?

Patients are eligible if they have a family history of PH1, or for adults/children with elevated oxalate levels or evidence such as kidney stones, nephrocalcinosis, and/or impaired renal function.

How is the test ordered and what specimen types are accepted?

Order via the provider portal or requisition form; specimen types include blood, saliva or buccal swab—kits are provided at no charge.

What is the turnaround time?

Results are typically available within a few weeks once the specimen and completed paperwork are received.

What about family testing and cascade screening?

Because PH1 is autosomal recessive, when a pathogenic variant is identified, siblings and other at-risk family members may also be considered for testing or counseling.

Are there cost or billing obligations for the patient, provider, or payer?

No. There is no charge to the patient, provider, or payer; do not bill third-party payers for this sponsored testing.

What about data privacy and sponsor involvement?

While the program is sponsored by Alnylam Pharmaceuticals, all services are performed by independent third parties. No identifiable patient data is shared with the sponsor.

Test details

  • ConditionPrimary Hyperoxaluria Type 1 (PH1)
  • Test typeNGS
  • Test code16029
  • Genes / markers
    3
  • Key genes / markersAGXT, GRHPR, HOGA1
  • SpecimenWhole blood•Saliva•Buccal swab
  • Turnaround time2-3 Weeks
  • LabPrevention Genetics

Getting started

Use the links below to review program details, place orders, print requisitions, or request collection kits.

Performing lab

Prevention Genetics

Order testPrint requisitionOrder collection kitLearn more

Privacy & ordering: This directory doesn't handle PHI. Orders occur on participating labs' systems. Privacy & Compliance

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