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Nephrology / UrologyPrimary Hyperoxaluria Type 1 (PH1)

Alnylam Act® Primary Hyperoxaluria Type 1 (45 genes)

No-cost 45-gene testing for individuals with suspected PH1 or family history, to support diagnosis of Primary Hyperoxaluria Type 1.

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 family-history of Primary Hyperoxaluria Type 1 (PH1) to access a 45-gene panel including AGXT, GRHPR, HOGA1 and other relevant nephrolithiasis-associated genes. Early genetic insight can help confirm diagnosis, guide monitoring and enable family risk assessment. The test 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

    Discuss Testing With Your Provider

    Your provider will review your history and symptoms to confirm whether you qualify for this test.

  2. 2

    Your Test Is Ordered

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

  3. 3

    Provide Your Sample

    A specimen will be collected using a simple collection tube. Your provider labels and sends it to the lab.

  4. 4

    Review Your Results

    Results are sent to your provider in about 3 weeks. They will review the findings with you and answer any questions.

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 program offers no-charge genetic testing and genetic counseling for individuals with suspected or family-history of Primary Hyperoxaluria Type 1 (PH1). The test analyzes 45 genes related to PH1 and other conditions that cause kidney stones or elevated oxalate.

Who is eligible?

You may be eligible if you have a personal or family history of PH1, elevated oxalate levels, kidney stones, nephrocalcinosis, or other signs that suggest PH1 or a related condition.

What genes are included?

The test evaluates 45 genes, including AGXT, GRHPR, HOGA1, and other genes associated with PH1-like presentations and kidney stone disorders.

Will I have to pay for the test?

No. The genetic test and optional genetic counseling are provided at no cost to you, your healthcare provider, or your insurance.

What happens after testing?

Your provider receives the results and will review them with you. You may also have access to no-charge genetic counseling to help you understand what your results mean for you and your family.

Will my personal information be shared?

No identifiable information is shared with the sponsor. Only de-identified data may be used for program reporting.

Test details

  • ConditionPrimary Hyperoxaluria Type 1 (PH1)
  • Test typeTargeted NGS Panel
  • Test code16035
  • Genes / markers
    45
  • SpecimenWhole blood•Buccal swab•Saliva
  • 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 (45 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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