Genetic Testing Program
Fabry Disease Sponsored Genetic Testing Program
No-cost comprehensive genome sequencing for patients with suspected Fabry Disease.
In partnership with Chiesi Global Rare Diseases, GeneDx offers sponsored genetic testing to help confirm or rule out Fabry Disease in eligible patients. Fabry Disease is a rare, inherited lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficiency of the enzyme alpha-galactosidase A and accumulation of globotriaosylceramide (Gb3).
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What is Fabry Disease?
Fabry Disease is a rare, inherited lysosomal storage disorder caused by pathogenic variants in the GLA gene. It is inherited in an X-linked pattern and results in deficiency of the enzyme alpha-galactosidase A, leading to progressive accumulation of globotriaosylceramide (Gb3) in cells throughout the body.
It is characterized by:
- Neuropathic pain (acroparesthesias)
- Angiokeratomas
- Corneal verticillata
- Progressive renal impairment
- Hypertrophic cardiomyopathy
- Increased risk of stroke and cerebrovascular complications
Because clinical presentation can vary widely — particularly between males and females — 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?
Testing will be available to patients who meet the following eligibility criteria
- Reside in the USA
- Must have or be suspected of having Fabry Disease
- Have family members diagnosed with Fabry Disease
- The patient 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 in the United States
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-FABRY) 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.