Fabry Screening Program

Although individually rare, most of the so called “rare diseases” are not that rare. The true frequencies are not fully known. Especially in the lysosomal storage disorders (LSDs) that comprise of a group of nearly
60 different diseases, and with multiple organs affected, it is significantly necessary to detect the disease in the very early stages and start the treatment. Recent years have shown a growing appreciation for the view that understanding the pathogenesis of such complex diseases holds the key to successful treatment and personalized medicine.

Raised awareness demands easy access to diagnostics with systematic screening programs, ensuring clinically orientated and fast analysis as well as providing patients with effective therapeutic options.

This does not end with utilizing existing knowledge. Rare diseases are characterized with their demanding need of constant improvement in also disease and therapy monitoring by constantly developing novel biomarkers. Only this ensures that every patient is treated with the best individual care based on a quality driven and fast result convey.

Fabry disease is a lysosomal storage disorder that is characterized by a deficiency of the enzyme AGLA, which will typically lead to the accumulation of the sphingolipid globotriaosylceramide (Gb3) in numerous organs of the body. The patients may presents with isolated symptoms (e.g. only pain or cerebrovascular disorders) or with multiple symptoms which can differ in severity. In particular, these include pain (acroparasthesias), cardiac arrhythmias or neurological symptoms. If left untreated, Fabry disease not only impairs in the quality of life of the patient, life expectancy is also strongly reduced.

Find out more on how to recognize and treat Fabry disease by reading the “Interdisciplinary Guidelines for the Diagnosis and Treatment of Fabry disease”

Centogene offers an extensive Fabry screening program, including biochemical, genetic and biomarker testing for effective disease diagnosing and monitoring.
Measuring biomarkers is essential when treating patients with Fabry disease. Lyso-Gb3 in Fabry disease is able to reflect the burden of the disease and any potential need of correcting the course of treatment. Tracking biomarkers aides in documenting disease progress and examining the efficiency of treatment.
Centogene has developed a “Biomarker Medical ID Card” that helps to continuously document the biomarker values in your patient. We recommend measuring the biomarker at least once every three months.

Please contact us with any further questions. We are pleased to send you more detailed information.

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