COORDINATING THE PROPER COLLECTION AND PROCESSING OF BLOOD SAMPLES IN THE DIAGNOSIS OF FABRY DISEASE IS AN IMPORTANT FOUNDATION FOR THE SUCCESS OF NEONATAL SCREENING
Neonatal screening, conducted for the purpose of early detection of hereditary disorders and metabolic disorders, is important for the healthy development of adolescents. Proper collection, processing, and transportation of blood samples during screening directly affects the accuracy of the results [1,2,3]. The most effective method is to apply blood from the child's heel directly to the filter paper. This method is a priority for screening. The use of tubes and capillaries containing EDTA or citrate preservatives is not recommended unless blood is taken directly onto filter paper. It is generally accepted that these methods can lead to errors in the results. This holds particular significance in the management of illnesses linked to lysosome buildup, specifically for the prompt and early detection of Fabry disease [4,5].
Publication Details
- Journal
- Zenodo (CERN European Organization for Nuclear Research)
- Published
- 2025-08-02
- DOI
- https://doi.org/10.5281/zenodo.16721289
- Primary Topic
- Oral Health Pathology and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00