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 provides a sponsored 45-gene panel covering AGXT, GRHPR, HOGA1, and additional nephrolithiasis-associated genes, enabling differentiation of PH1 from phenotypically overlapping conditions in a single test. Genetic counseling is included for every case. Testing, counseling, and collection kits are provided at no cost to the patient, provider, or payer, and ordering carries no prescribing or purchase obligation.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Have a family history of, or a suspected diagnosis of, primary hyperoxaluria (select at least one):
- Family history of primary hyperoxaluria
- Adult (18 years or older) with either elevated urinary oxalate or elevated plasma oxalate
- Child (under 18 years old) with at least one of the following:
- Failure to thrive and impaired kidney function
- Nephrolithiasis
- Nephrocalcinosis
- Elevated urinary oxalate or elevated plasma oxalate
- Ordered by a qualified healthcare provider
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
Which patients are appropriate for the Alnylam Act PH1 sponsored genetic testing program?
The Alnylam Act PH1 program is intended for patients with a suspected diagnosis of primary hyperoxaluria or a relevant family history. Patients who meet the program's clinical criteria can be enrolled regardless of insurance status, as testing and counseling are fully sponsor-funded at no cost to the patient, provider, or payer. Specific eligibility criteria are defined by the program.
What genes and methodology does the Alnylam Act Primary Hyperoxaluria Type 1 panel cover?
The Alnylam Act PH1 panel interrogates 45 genes by next-generation sequencing (NGS), including AGXT, GRHPR, HOGA1, and additional nephrolithiasis-associated loci. This expanded panel supports differential diagnosis of PH1 versus other forms of primary hyperoxaluria and related stone-forming conditions. Testing is performed by PreventionGenetics (an Abbott subsidiary) in their CLIA/CAP-accredited laboratory.
What specimen types are accepted and how do I obtain collection kits for the Alnylam Act PH1 test?
The Alnylam Act PH1 program accepts whole blood, saliva, or buccal swab (OCD-100) specimens. Sample collection kits are provided at no charge and can be ordered directly through the PreventionGenetics ordering portal. The kits include all materials and shipping supplies needed for specimen collection and return.
What is the turnaround time for the Alnylam Act PH1 genetic test?
The Alnylam Act Primary Hyperoxaluria Type 1 45-gene panel has a turnaround time of 2 to 3 weeks from specimen receipt at PreventionGenetics. Results are returned to the ordering provider. Genetic counseling is available at no charge to support interpretation and family cascade planning.
Is genetic counseling included with the Alnylam Act PH1 program, and is there any cost or obligation to order?
Genetic counseling is included at no cost as part of the Alnylam Act PH1 program. The entire program, including the 45-gene NGS panel, counseling, and sample collection kits, is fully sponsored with no charges to the patient, ordering provider, or payer. Ordering the test carries no prescribing or purchase obligation of any kind.
How does the Alnylam Act 45-gene panel help differentiate PH1 from other causes of hyperoxaluria?
By including AGXT alongside GRHPR, HOGA1, and a broad set of nephrolithiasis-associated genes, the Alnylam Act panel enables clinicians to distinguish PH1 from PH2, PH3, and other genetic stone-forming disorders in a single reflexive test. This supports more precise diagnosis, appropriate management pathway selection, and identification of at-risk family members for cascade screening.
Which patients are eligible for Alnylam Act Primary Hyperoxaluria Type 1 genetic testing?
Patients may qualify for Alnylam Act if they meet the program's eligibility criteria:
- 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.
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