ABCC6 Gene Testing
Comprehensive ABCC6 gene sequencing to identify variants causing ABCC6 Deficiency or PXE, using NGS plus long-range PCR/Sanger to resolve pseudogene interference.
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, sponsored by Inozyme Pharma, provides no-cost genetic testing for the ABCC6 gene, which is associated with Pseudoxanthoma Elasticum (PXE). Testing is available to eligible patients and must be ordered by a qualified health care provider.
Who this may help
Could this be right for you or your family?
- Previously diagnosed with pseudoxanthoma elasticum (PXE), OR
- Has clinical features that raise suspicion for PXE
What to expect
How the process works
- 1
Talk with your provider
Your health care provider can request a test kit for this program and review whether this test is appropriate for you.
- 2
Check eligibility
Your provider will determine if you meet the program’s eligibility criteria and discuss the ABCC6 genetic test.
- 3
Provide a blood sample
Your provider will collect your blood sample, complete the required Test Requisition Form, and ship your specimen to the lab. All specimen containers must include at least two patient identifiers.
- 4
Receive your results
Results are typically available about two weeks after the lab receives your sample. Your provider will review your results with you.
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 program provides no-cost genetic testing for the ABCC6 gene, which is linked to Pseudoxanthoma Elasticum (PXE), a rare inherited calcification disorder.
Who is eligible?
You may qualify if you have a confirmed diagnosis of PXE or your provider suspects PXE based on your symptoms or clinical findings.
How do I get tested?
Your health care provider must order the test. They will determine your eligibility, collect your blood sample, and send it to the lab.
How long does testing take?
Results are typically available within about two weeks after the lab receives your sample and required paperwork.
Is genetic counseling included?
No. This program does not include genetic counseling for patients or families. However, your provider can speak with PreventionGenetics genetic counselors if they need help reviewing your results.
Questions to ask your doctor about ABCC6 Gene Testing
- 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?