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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

Primary Hyperoxaluria Type 1 (PH1) is a rare condition that can cause kidney stones, kidney damage, and other serious problems when the body makes too much oxalate. Getting a clear genetic answer early can make a real difference in how the condition is managed and whether other family members should be tested. The Alnylam Act program provides a comprehensive 45-gene panel and genetic counseling at absolutely no cost to you, your doctor, or your insurance. If you or a loved one has symptoms of PH1 or a family history of primary hyperoxaluria, this program can help you get the answers you need.

Who this may help

Could this be right for you or your family?

  • To qualify, all of the following must be met:
    • The patient has a family history of, or a suspected diagnosis of, primary hyperoxaluria — at least one of the following is true:
      • There is a family history of primary hyperoxaluria
      • The patient is an adult (18 or older) with high oxalate in the urine or blood
      • The patient is a child (under 18) with at least one of the following:
        • Not growing or gaining weight as expected (failure to thrive) together with reduced kidney function
        • Kidney stones (nephrolithiasis)
        • Calcium deposits in the kidneys (nephrocalcinosis)
        • High oxalate in the urine or blood
    • Testing is ordered by a qualified healthcare provider

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 the Alnylam Act free genetic testing program for Primary Hyperoxaluria Type 1?

The Alnylam Act program is a sponsored genetic testing and counseling program designed for people who may have Primary Hyperoxaluria Type 1 (PH1) or who have a family history of primary hyperoxaluria. It uses a 45-gene panel that looks at AGXT, GRHPR, HOGA1, and other genes associated with kidney stone conditions to help confirm or rule out a PH1 diagnosis. The program also includes genetic counseling to help you understand your results and what they mean for you and your family.

Is the Alnylam Act PH1 genetic test really free, and who pays for it?

Yes, the Alnylam Act PH1 genetic test is completely free to you. The program's sponsor, Alnylam, covers the full cost of both the genetic testing and the genetic counseling. There is no charge to you, your doctor, or your insurance. You will not receive a bill, a copay, or any hidden fees.

What kind of sample is needed for the Alnylam Act Primary Hyperoxaluria Type 1 test?

The Alnylam Act PH1 test can be done using a blood draw, a saliva sample, or a buccal swab (a gentle cheek swab). Your doctor's office will order a free sample collection kit, and the kit will include everything needed to collect and send in your sample. This makes testing straightforward for both adults and children.

How long does it take to get results from the Alnylam Act PH1 genetic test?

Results from the Alnylam Act Primary Hyperoxaluria Type 1 genetic test are typically ready in about 2 to 3 weeks after your sample arrives at the lab. Your doctor will receive the results and review them with you. Genetic counseling is also included at no cost to help you understand what the findings mean.

Does the Alnylam Act PH1 program include genetic counseling?

Yes, the Alnylam Act program includes genetic counseling at no cost to you. A genetic counselor can help explain your test results, talk through what they mean for your health and treatment, and discuss whether family members might benefit from testing as well. This support is available as part of the program so you are not left to interpret results on your own.

Why does the Alnylam Act test look at 45 genes instead of just the AGXT gene for Primary Hyperoxaluria?

Primary Hyperoxaluria Type 1 is caused by changes in the AGXT gene, but there are other types of primary hyperoxaluria and related kidney stone conditions caused by different genes. The Alnylam Act panel tests 45 genes, including AGXT, GRHPR, HOGA1, and other nephrolithiasis-associated genes. This broader approach helps your doctor tell PH1 apart from similar conditions, which is important for choosing the right treatment and care plan.

Who qualifies for Alnylam Act Primary Hyperoxaluria Type 1 genetic testing?

Patients may qualify for Alnylam Act if they meet the program's eligibility criteria:

  • 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.

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

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