Patients with Farber disease or high-grade suspicion for Farber disease

For the development of the new biomarkers using the technique of Mass-spectometry, a blood sample will be taken via using a dry blood spot filter card. To proof the correct Farber diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of Farber will be done. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

Farber's Lipogranulomatosis

Ceramidase Deficiency

Hepatomegaly

Splenomegaly

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine

Children Hospital, Faculty of Medicine, Cairo University

Centogene AG

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Biomarker for Farber Disease (BioFarber)

Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol

Next-Generation Sequencing (NGS) of the ASAH1 gene will be performed. The mutation will be confirmed by Sanger sequencing.

The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

ceramide/seizures

Biomarker for Farber Disease (BioFarber)

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