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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 help patients understand the purpose of testing and what to expect.

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For patients

What this test and program do

This no-charge genetic testing and counseling program enables individuals with suspected or confirmed PH1 to access testing of the AGXT/GRHPR/HOGA1 genes. Early identification of a PH1 mutation can inform decisions about monitoring, family screening, and treatment planning. Genetic testing and counseling are offered at no cost under the Alnylam Act® program.

Who this may help

Could this be right for you or your family?

  • You may qualify if you have a family history of Primary Hyperoxaluria (PH1) or your provider suspects PH1.
  • Adults (18+) may be eligible with high urinary oxalate or high plasma oxalate levels.
  • Children may qualify if they have kidney problems, including failure to thrive with reduced kidney function.
  • Children may also qualify with kidney stones or nephrocalcinosis.
  • Children may be eligible with elevated urinary or plasma oxalate.

What to expect

How the process works

  1. 1

    Talk With Your Provider

    Your provider will review your symptoms and history to confirm you meet eligibility for testing.

  2. 2

    Your Test Is Ordered

    Your provider orders the test online or completes the required forms for you.

  3. 3

    Provide the Sample

    A small sample is collected using the provided tube. Your provider labels and sends it to the lab.

  4. 4

    Discuss Your Results

    Your provider receives your results in about 3 weeks and will review them with you.

Cost & coverage

Understanding potential costs

If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.

Quality & privacy

How your sample and information are handled

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

Common questions about this program

What is this testing program?

This is a no-charge genetic testing and counseling program for individuals in the U.S. and Canada who have a suspected or confirmed risk of PH1.

Who is eligible for testing?

Eligibility includes individuals with a family history of PH1, or those (adult or child) with elevated urinary or plasma oxalate or signs such as kidney stones or nephrocalcinosis.

What genes does the test examine?

The program covers genetic analysis of the AGXT, GRHPR and HOGA1 genes (the primary PH1 gene set).

Will there be any cost to me?

No. For eligible patients, both the genetic test and genetic counseling are provided at no cost to you, your healthcare provider, or your payer.

What happens after I get my results?

Your healthcare provider will receive the results and discuss them with you; genetic counseling is also available to help interpret what the result means for you and your family. 

Will my personal information be shared with the sponsor?

No identifiable patient information is shared with Alnylam; only de-identified data may be used. The genetic testing and counseling are conducted by independent third-party providers.

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
  • Program regionUnited States, Canada

Next steps

Share this information with your healthcare provider or genetic specialist. They can help determine whether this test and program are appropriate for you.

Or ask your doctor to search for this test by name at Prevention Genetics.

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Questions to ask your doctor about Alnylam Act® Primary Hyperoxaluria Type 1 (3 genes)

  1. Do you think this test is appropriate for me based on my symptoms and history?
  2. How could the results of this test change my diagnosis or treatment plan?
  3. What are the potential limitations of this test that I should understand?
  4. Should any of my family members also be tested based on my results?
  5. How will we follow up after the results are available?

Notes

See an issue with this program?

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