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
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article

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

Zenodo (CERN European Organization for Nuclear Research)
Oral Health Pathology and Treatment
article

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

article en

Abstract

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].

Zenodo (CERN European Organization for Nuclear Research)
Good health and well-being
Openalex Percentile: Top 46%
Oral Health Pathology and Treatment
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