ENPP1 and ABCC6 Sequencing
Tests two genes—ENPP1 and ABCC6—to identify pathogenic variants in severe calcification disorders such as GACI and hypophosphatemic rickets type 2 (ARHR2).
Accessed through the Rare Calcification Disorders Sponsored Testing Program•Sponsored by Inozyme Pharma•Performed by Prevention Genetics
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
This Inozyme Pharma–sponsored program offers no-cost testing for ENPP1 and ABCC6, genes associated with GACI type 1 and later manifestations such as ARHR2 or PXE. Genetic confirmation supports diagnosis, management decisions, and assessment of family risk.
When to consider this test
Patient selection
- GACI
- PPi level (if available) <50% of normal
- Serious or life-threatening symptoms beginning within first 6 months (HTN, respiratory distress, cardiac insufficiency, MI, FTT)
- Arterial calcifications identified in the first 6 months, with non-genetic causes excluded
- ARHR2
- PPi level (if available) <50% of normal
- Current or prior clinical diagnosis of rickets
- Alternative rickets etiologies excluded, including vitamin D deficiency or mutations in FGF23, PXE, DMP1
Workflow
How to use this program
- 1
Confirm eligibility
Verify that the patient meets the eligibility criteria for GACI and/or ARHR2 genetic testing (ENPP1 and ABCC6). Eligibility requirements are outlined in the Inozyme Pharma Informed Consent Form. Non-English ICFs are available near the bottom of the form.
- 2
Order testing
Testing must be ordered by a qualified health care provider using the appropriate program documentation.
- 3
Submit sample
Follow the sample collection and shipping instructions on page 5 of the Inozyme Pharma Test Requisition Form
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 may be appropriate for this test?
Consider testing for patients with suspected GACI (early life arterial calcifications, low PPi, serious infant symptoms) or ARHR2 (rickets suspected to be genetic, low PPi) who meet the detailed eligibility criteria in the Inozyme Pharma program.
How do I order the test?
Order using the test requisition form PreventionGenetics. Collect required clinical information and ship the sample (whole blood preferred).
What specimens are accepted?
Whole blood is preferred. Saliva or buccal may be used when necessary. Label the specimen with at least two patient identifiers and follow the shipping instructions.
Is genetic counseling included in this program?
Genetic counseling services for patients and their families are not included with this program. However, PreventionGenetics genetic counselors are available to discuss test results directly with ordering providers. You can contact them at +1 715-387-0484 or support@preventiongenetics.com
for assistance with result interpretation.
What is the expected turnaround time?
The laboratory typically reports results in approximately 2–3 weeks following receipt of the specimen and all required documentation.
See an issue with this program?