CENTOGENE has developed a new MRM-MS assay for Morquio IVa disease in dried blood spots that makes the early diagnosis easier and more robust


Enzymatic assays play an essential role in the diagnosis of several metabolic diseases, especially when patients have accessible treatment options. They enable initial screening of patients suspected to suffer from a given disease and the diagnosis process is completed by genetic confirmation in a second step. By using the latest mass spectrometry technology we are able to detect the result of the enzymatic assays using a minimal amount of biological sample.

For all applications, simple and efficient sample logistics is essential. One drop of blood on a filtercard is sufficient. Robust and accurate results have been demonstrated for all our tests using CENTOGENE’s dried blood spot kits, CentoCard®.

Please find more details below and in our publication about this new assay.

Diagnosis of Morquio IVa disease in dried blood spots based on a new MRM-MS assay

Mucopolysaccharidosis IVA (MPS IVa; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6- sulfate in tissues and secondary organ damage. Recently approved enzyme replacement therapy renders the easy and early identification of MPS IVA of out-most importance.

N-acetylgalactosamine-6-sulfatase activity in DBS from healthy persons and MPS IVA patients

We propose a completely new and innovative assay for the easy and reproducible detection of GALNS deficiency in dry blood spots (DBS). This new LC/MRM-MS based assay provides a highly standardized, accurate and innovative quantification of the enzymatic product in vitro and distinguishes perfectly between MPS IVa affected patients and non-affected individuals. This technique will significantly simplify the early detection of MPS IVa patients. DBS for Morquio testing is stable - properly stored – for at least 3 years.

For more details and to read the full article, click here or download our poster or our latest flyer "Novel biomarkers for lysosomal storage disorders (LSDs)".

If you have any questions or comments, please do not hesitate to contact us.

Best regards,

Doreen Niemann
Senior Director Strategic Communication
Centogene AG


Centogene AG
Schillingallee 68
18057 Rostock


Responsible: Doreen Niemann
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