GenomeDx
No-charge GenomeDx whole genome sequencing from GeneDx to confirm Alpha-Mannosidosis (MAN2B1), sponsored by Chiesi Group.
Accessed through the Alpha-Mannosidosis Genetic Testing Program Sponsored Testing Program•Sponsored by Chiesi Group•Performed by GeneDx
Designed to help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
When a doctor suspects alpha-mannosidosis, getting a clear genetic answer can change everything, from understanding what is happening to planning the best path forward. The Alpha-Mannosidosis Genetic Testing Program provides whole genome sequencing through GeneDx at absolutely no cost to eligible patients in the United States. Because this test looks across your entire genome, not just a single gene, it can confirm a diagnosis of alpha-mannosidosis and may also uncover other genetic explanations if the initial suspicion is not confirmed. Chiesi Group sponsors the program and covers all testing costs, so cost should never stand in the way of answers.
Who this may help
Could this be right for you or your family?
- You live in the USA
- You have developmental delay
- AND at least 2 of the following:
- Coarse facial features
- Difficulty with movement or mobility
- Frequent or recurring infections
- Hearing loss
- You have not had prior genetic testing by a clinical laboratory that explained your symptoms
- Your ordering provider is authorized under applicable law to order genetic testing
What to expect
How the process works
- 1
Talk with your doctor
Discuss your symptoms, personal history, and family history with a cardiologist or genetic specialist.
- 2
Complete the blood draw
If appropriate, your doctor orders the ARVC panel and a simple blood sample is collected and sent to the lab.
- 3
Review your results
Results are returned to your doctor, who will explain what they mean and discuss next steps for care.
- 4
Discuss ongoing follow-up
Work with your doctor to plan ongoing monitoring, follow-up visits, and any recommended testing for family members.
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 GeneDx, a CLIA-certified laboratory (CLIA CLIA 12D3456789). 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 the Alpha-Mannosidosis Genetic Testing Program and what does it test?
The Alpha-Mannosidosis Genetic Testing Program offers whole genome sequencing performed by GeneDx for individuals with a clinical suspicion of alpha-mannosidosis. Unlike a single-gene test, whole genome sequencing reads virtually all of your DNA, roughly 20,000 genes. While the program focuses on the MAN2B1 gene associated with alpha-mannosidosis, its comprehensive scope means that if MAN2B1 is not the cause, the test may still identify another genetic explanation for your or your child's symptoms.
Is genetic testing for alpha-mannosidosis through this program really free, and who pays for it?
Yes, the Alpha-Mannosidosis Genetic Testing Program is completely free to eligible patients. Chiesi Group, the pharmaceutical company that sponsors the program, covers all testing costs. You will not receive a bill, a copay, or any out-of-pocket charge for the test. The goal is to make sure that cost is never a barrier to getting a genetic diagnosis.
Who can access the no-cost alpha-mannosidosis genetic testing program?
The Alpha-Mannosidosis Genetic Testing Program is available to patients in the United States whose doctor has a clinical suspicion of alpha-mannosidosis. Your healthcare provider can determine whether you or your child meets the program's eligibility criteria and can place the order on your behalf.
Why does the alpha-mannosidosis testing program use whole genome sequencing instead of just testing one gene?
Whole genome sequencing looks at nearly all of your genetic material, not just the MAN2B1 gene linked to alpha-mannosidosis. This comprehensive approach is a real strength because symptoms of alpha-mannosidosis can overlap with other rare conditions. If MAN2B1 turns out not to be the cause, the broad scope of the test may still reveal a different genetic explanation, helping your family avoid a long and uncertain diagnostic journey.
Is genetic counseling available through the Alpha-Mannosidosis Genetic Testing Program?
GeneDx, the lab that performs the testing, offers genetic counseling support as part of its services. A genetic counselor can help you and your family understand what the test results mean and what steps to consider next. Ask your ordering provider about connecting with genetic counseling resources.
Who qualifies for Alpha-Mannosidosis Genetic Testing Program Alpha-Mannosidosis genetic testing?
Patients may qualify for Alpha-Mannosidosis Genetic Testing Program if they meet the program's eligibility criteria:
- You live in the USA
- You have developmental delay
- AND at least 2 of the following:
- Coarse facial features
- Difficulty with movement or mobility
- Frequent or recurring infections
- Hearing loss
- You have not had prior genetic testing by a clinical laboratory that explained your symptoms
- Your ordering provider is authorized under applicable law to order genetic testing
Questions to ask your doctor about GenomeDx
- 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?