Diagnostic Services for
Fabry Disease

A proven and certified diagnostic service delivering reliable results for Fabry Disease using advanced analytical techniques including enzyme, biomarker, and genetic testing.

Premium diagnostic services for Fabry Disease.
From enzyme and biomarker to genetic confirmation.

Path to Fabry Disease Diagnosis

Our service is ideal for the identification of Fabry disease in at-risk patients showing specific clinical symptoms or for an individual or family member who has a family history of Fabry disease.

Testing is fast and safe using Dried Blood Spot (DBS) cards. This simple and minimally invasive technique supplies enough sample for biochemical testing and in most cases genetic confirmation testing as well.

Path to Fabry disease diagnostics

Available enzymatic and biomarker tests:

GLA (α-Galactosidase A)

Lyso-GL-3 (Lyso-Gb3)

Available genetic tests:

Gene Associated disease(s) OMIM # Inheritance
GLA Fabry Disease 300644 XL


Fully validated and accredited according to the highest quality standards for Medical Laboratories (ISO 15189).

Methodologies used:

  • Enzyme and biomarker assays by Clinical Mass Spectrometry.
  • Genetics by Sanger and Next-Generation Sequencing platforms.

About Fabry Disease

What is Fabry disease?

Fabry disease (FD) is a rare X-linked inherited disorder where deficiency of the α-Galactosidase A (α-Gal A) enzyme causes Globotriaosylceramide (GL-3/Gb3) lipid accumulation in the cells of different organs. The multiple organ involvement in Fabry disease causes damage which progresses over several decades. It can result in end-stage kidney disease, cardiovascular disease, and reduced life expectancy.

There are two phenotypes of Fabry disease:

  • Classical form (early-onset) – Patients with this form have very little or no enzyme activity and clinical symptoms appear in early childhood or adolescence.
  • Non-classical form (late-onset) – Patients with this form have some enzyme activity and normal development. Symptoms begin to appear from early adulthood.

Which mutation causes an enzyme deficiency?

Fabry disease is caused by different mutation variants in the GLA gene, the gene responsible for coding the α-Gal A enzyme which metabolizes GL-3/Gb3. A reduction in α-Gal A activity below a certain level and an increase in the concentration of the sphingolipid Lyso-GL-3 (Lyso-Gb3) will support a diagnosis of FD.

Can women be affected by Fabry disease?

Because Fabry disease is an X-linked inherited disorder, the disease primarily affects men, however, due to random X-chromosome inactivation, women can potentially be affected with either form of the disease. Enzyme testing is less effective in these women and evidence shows that biomarker testing in combination with enzyme testing substantially improves the detection of Fabry disease in females[1,2,3].

Are Fabry disease symptoms similar to other diseases?

The symptoms of FD are often non-specific and resemble those of other conditions. They can appear at different stages of the disease or some symptoms not at all, depending on which organs are being affected. Consequently, FD is often misdiagnosed or delayed in diagnosis.

Clinical Symptoms:

Common symptoms include gastrointestinal pain, pain to the extremities, chronic kidney disease, cardiomyopathy, arrhythmia, heart valve stenosis, discomfort in warm temperature due to reduced sweating, tinnitus, hearing loss, angiokeratoma, ocular involvement, transient ischemic attack, stroke, and dementia

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How to Order Fabry Disease Diagnostic Services

ARCHIMEDlife Sampling Kit

Our Diagnostic Service for Fabry Disease includes enzyme testing for α-Galactosidase A, biomarker testing for Lyso-GL-3 (Lyso-Gb3) as well as any necessary genetic molecular analysis.

These services are available to any interested physician or healthcare professional worldwide.

As part of our diagnostic service, we supply complimentary ARCHIMEDlife sampling kits. You can order your sampling kits and diagnostic services though our easy and secure WEBPORTAL and receive your electronic medical report in five simple steps.

Five Simple Steps

1Order Sampling Kit

2Collect the Sample

3Register the DBS card

4Return the Sample

5Receive your Report

More questions about Fabry Disease
and supporting diagnostics?


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