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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
Sponsored by Inozyme Pharma, this program offers global, no-cost genetic testing for the ABCC6 gene linked to PXE. Testing is available for patients who meet program eligibility criteria and must be ordered by a qualified health care provider.
When to consider this test
Patient selection
- Patient has a confirmed diagnosis of PXE, OR
- Patient has clinical findings suggestive of PXE and requires genetic evaluation of ABCC6
Workflow
How to use this program
- 1
Request test kits
Request program collection kits using the “Order Test Kits” button on this page.
- 2
Confirm eligibility
Determine whether the patient meets one of the program’s eligibility criteria and discuss testing with the patient.
- 3
Order, collect, and ship
Order the test, collect a blood specimen, complete the Test Requisition Form, and ship the sample. Label containers with two identifiers. Specimens are accepted Monday–Saturday.
- 4
Review and communicate results
PreventionGenetics will issue results in approximately two weeks after receiving the specimen and complete paperwork. Review results with the patient and/or caregiver.
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 qualify for this program?
Patients are eligible if they meet one of the following:
- Previously diagnosed PXE
- Clinical suspicion of PXE based on physical findings, imaging, or ophthalmologic features
How do I order testing?
Request test kits through the “Order Test Kits” button on the program page. Confirm eligibility, collect a blood specimen, complete the Test Requisition Form, and ship to the lab.
What is the turnaround time?
Results are generally reported within approximately two weeks after the specimen and paperwork are received.
Is genetic counseling available?
Genetic counseling is not included for patients through this program. PreventionGenetics genetic counselors are available to support providers with result interpretation at +1 715-387-0484 or [email protected].
What specimen is required?
A blood specimen is required for this test. Label all containers with at least two identifiers (name, DOB, ID) before shipping. Specimens are accepted Monday–Saturday.
See an issue with this program?