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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The Alpha-Mannosidosis Genetic Testing Program provides GeneDx GenomeDx whole genome sequencing at no charge for eligible US patients with clinical suspicion of alpha-mannosidosis. Focused on MAN2B1 but leveraging full genome coverage, the assay can identify alternative genetic etiologies when the primary suspicion is not confirmed, reducing the need for sequential testing. The program is fully funded by Chiesi Group.
When to consider this test
Patient selection
- Reside in the USA
- Have developmental delay
- AND at least 2 of the following:
- Coarse facial features
- Impaired mobility
- Recurring infections
- Hearing loss
- Must not have had prior genetic testing performed by a clinical laboratory which explained the patient's symptoms
- The ordering provider must be authorized under applicable law to order genetic testing
Workflow
How to use this program
- 1
Identify eligible patients
Consider patients with suspected or confirmed ARVC, concerning arrhythmias, or relevant family history.
- 2
Order through your usual workflow
Use your standard ordering process for submitting tests to Example Genetics Lab (portal or existing workflows).
- 3
Integrate results into management
Use results to refine diagnosis, guide cascade testing, and inform monitoring and treatment decisions.
- 4
Plan follow-up and cascade testing
Determine downstream actions including surveillance, family member testing, and long-term management plans.
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 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
Frequently asked questions
Which patients are appropriate for the Alpha-Mannosidosis Genetic Testing Program?
The Alpha-Mannosidosis Genetic Testing Program is designed for US-based patients with a clinical suspicion of alpha-mannosidosis who meet the program's eligibility criteria. Because the assay is whole genome sequencing rather than a targeted single-gene test, it is particularly valuable when the differential includes overlapping lysosomal storage or metabolic phenotypes.
What does the alpha-mannosidosis sponsored testing program's whole genome sequencing cover beyond MAN2B1?
The program uses GeneDx's GenomeDx whole genome sequencing platform, which sequences approximately 20,000 genes. While the primary gene of interest is MAN2B1, the comprehensive scope means that if a pathogenic variant in MAN2B1 is not identified, the data can reveal other monogenic causes consistent with the patient's phenotype. This eliminates the need for iterative, stepwise genetic workups in many cases.
Is there any cost or purchasing obligation when ordering through the Alpha-Mannosidosis Genetic Testing Program?
There is no cost to the patient and no purchase or prescribing obligation for the ordering clinician. Chiesi Group fully sponsors the program and covers all testing costs for eligible patients. Ordering through this program does not commit you or your institution to any product or service agreement with Chiesi Group or GeneDx.
How do I order the sponsored alpha-mannosidosis whole genome sequencing test from GeneDx?
Ordering clinicians must use the program-specific test requisition form available on GeneDx's website. If you do not yet have a GeneDx provider account, you can register through their portal. Specimen collection and shipping should follow GeneDx's standard specimen requirements. For questions, GeneDx's provider support team can assist with logistics and ordering.
Is genetic counseling support available for patients tested through the Alpha-Mannosidosis Genetic Testing Program?
GeneDx provides genetic counseling support as part of its testing services. This resource can help with pre-test counseling, results interpretation, and post-test follow-up for patients and families navigating a complex diagnostic picture. Clinicians can connect their patients with these services when placing the order or after results are returned.
Which patients are eligible 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:
- Reside in the USA
- Have developmental delay
- AND at least 2 of the following:
- Coarse facial features
- Impaired mobility
- Recurring infections
- Hearing loss
- Must not have had prior genetic testing performed by a clinical laboratory which explained the patient's symptoms
- The ordering provider must be authorized under applicable law to order genetic testing
See an issue with this program?