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 help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
This program provides no-cost genetic testing for the ENPP1 and ABCC6 genes, which are linked to rare calcification disorders. These conditions may cause serious symptoms in infancy, including GACI, and may later present as ARHR2 (ENPP1) or PXE-related features (ABCC6).
Who this may help
Could this be right for you or your family?
- For suspected GACI
- PPi level (plasma or urine), if available, is <50% of normal
- Had serious symptoms in the first 6 months of life (e.g., hypertension, respiratory issues, cardiac insufficiency, MI, or failure to thrive)
- Had arterial calcifications in the first 6 months of life, with twin-to-twin transfusion and sickle cell anemia ruled out
- For suspected ARHR2
- PPi level (plasma or urine), if available, is <50% of normal
- Has a current or past diagnosis of rickets
- Other causes of rickets have been excluded (e.g., vitamin D deficiency or variants in FGF23, PXE, DMP1)
What to expect
How the process works
- 1
Discuss
Testing must be ordered by a qualified health care provider (HCP). Discuss this program with your provider to determine if it is an option for you or your child.
- 2
Confirm Eligibility
Your provider will determine whether you meet the eligibility criteria for GACI or ARHR2 testing. Eligibility details are listed in the Inozyme Pharma Informed Consent Form. Non-English versions are available near the bottom of the form.
- 3
Provide a Sample
Your provider will follow the sample collection and shipping instructions found on page 5 of the Inozyme Pharma Test Requisition Form
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 program?
This no-cost program provides genetic testing for the ENPP1 and ABCC6 genes, which are associated with rare calcification disorders such as GACI and ARHR2.
Who is eligible?
Individuals suspected of GACI (arterial calcification in infancy) or ARHR2 (genetically-suspected rickets) who meet the specific eligibility criteria listed in the Inozyme Pharma program will qualify.
How do I get started?
Your provider must order the test. If you meet eligibility, a sample (blood, saliva or buccal) will be collected and shipped to the lab for analysis.
How long does it take to get results?
Results are typically available within 2–3 weeks after the lab receives your sample and completed paperwork.
Is genetic counseling included with this program?
Genetic counseling for patients and families is not included as part of this sponsored testing program. However, your health care provider can speak directly with PreventionGenetics genetic counselors if they need support interpreting your test results.
Questions to ask your doctor about ENPP1 and ABCC6 Sequencing
- Do you think this test is appropriate for me based on my symptoms and history?
- How could the results of this test change my diagnosis or treatment plan?
- What are the potential limitations of this test that I should understand?
- Should any of my family members also be tested based on my results?
- How will we follow up after the results are available?
Notes
See an issue with this program?