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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The Alnylam Act® program offers complimentary 45-gene panel testing and genetic counseling for patients with suspected PH1 or a relevant family history (covering AGXT, GRHPR, HOGA1 and additional nephrolithiasis-associated genes). This expanded panel aids you in distinguishing PH1 from related conditions, supporting diagnosis, management pathways and family screening. All services are provided at no charge to the patient, provider or payer.
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
Confirm Patient Eligibility
Review symptoms, clinical findings, or family history to confirm eligibility and discuss testing with the patient.
- 2
Submit the Test Order
Order the test through the online portal or complete the test requisition form.
- 3
Collect and Label Specimen
Collect the specimen and label it with two identifiers. Specimens are accepted Monday–Saturday; holiday schedules are posted in advance.
- 4
Review Test Results
Results return in about 3 weeks. Review findings with the patient or caregiver and discuss next steps.
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 provide?
The Alnylam Act® program offers complimentary 45-gene panel testing for patients with suspected PH1, plus optional no-charge genetic counseling to support interpretation and patient education.
Which patients qualify?
Eligible patients include those with a family history of PH1 or individuals (adults or children) with elevated oxalate, recurrent kidney stones, nephrocalcinosis, or other findings that raise suspicion for PH1 or related genetic kidney stone disorders.
What genes are assessed?
The panel includes 45 genes, covering AGXT, GRHPR, HOGA1, and a broad set of nephrolithiasis-associated genes that help differentiate PH1 from overlapping conditions.
How do I order the test?
Order through the PreventionGenetics online portal or by using the program-specific requisition form. Specimen kits (blood, saliva or buccal) are provided at no charge.
What is the turnaround time?
Results generally return in about 3 weeks after PreventionGenetics receives the specimen and all required paperwork.
Does the program support family testing?
Yes. If a pathogenic or likely pathogenic variant is identified, at-risk family members may be considered for follow-up testing and counseling.
Is there any cost or billing requirement?
No. Testing and counseling services are provided at no charge. Do not bill insurance or third-party payers for sponsored testing.
How is patient data handled?
Testing and counseling are performed by independent third parties. Identifiable patient data is not shared with the sponsor; only de-identified data may be used.
See an issue with this program?