Genetic Testing Program
Alpha-Mannosidosis Genetic Testing Program
No-cost comprehensive genome sequencing for patients with suspected Alpha-Mannosidosis.
In partnership with Chiesi Global Rare Diseases, GeneDx offers sponsored genetic testing to help confirm or rule out Alpha-Mannosidosis in eligible patients. Early molecular diagnosis can guide clinical management and inform treatment decisions.
What Is Alpha-Mannosidosis?
Alpha-Mannosidosis is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme acid alpha-mannosidase, most commonly due to pathogenic variants in the MAN2B1 gene. The condition is inherited in an autosomal recessive pattern.
It is characterized by:
- Developmental delay
- Intellectual disability
- Immune deficiency and recurrent infections
- Hearing impairment
- Coarse facial features
- Skeletal abnormalities
- Progressive neurological involvement
Because symptoms may overlap with other rare genetic conditions, comprehensive genomic testing is often required to establish a definitive diagnosis.
Early and accurate genetic confirmation can support appropriate care planning and help identify patients who may be eligible for disease-specific therapies.
Benefits of the Program
No out-of-pocket costs for eligible patients
All testing associated with this program is covered by our partner.
Access to comprehensive genome testing
With GenomeDxTM, your patients get comprehensive and timely results.
Advances future care
Data from this program helps to build a better understanding of the disease to develop future care treatment.
About Chiesi
Revolutionizing the lives of patients with rare diseases. The Chiesi Group has been dedicated to improving the quality of life of patients for over 90 years. Building on this legacy, Chiesi is a family-owned and operated, certified B Corporation. In 2020, the Chiesi Global Rare Diseases business unit was launched, reflecting their commitment to providing unique therapies that address the specific needs of patients with rare diseases.
Is your patient eligible?
How does the program work?
The testing works like any other GeneDx test order, with a few differences.
Eligibility
Eligibility criteria must be met.
Ordering
For portal orders, log in here or follow these steps to create an account. Provide the program code (STP-AM) after adding GenomeDx (proband, duo, or trio) to your cart. For paper TRF orders, use this specific TRF. To collect samples follow these instructions.
Report
You will receive a comprehensive clinical report with expert interpretation of your patient’s results
Billing
No claim will be submitted to a patient’s insurance. All tests are covered directly by Chiesi
Help your patients find answers
We’re here to support every step.