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The scientific paper was carried out by Pham Dinh Minh, PhD., Nguyen Thi Kieu Oanh, MSc., Nguyen Thi Huyen, MSc. MD (GENTIS Genetic Analysis Services JSC), and Dang Thi Nga, MSc.MD. (University of Public Health). The research was conducted from January 2023 to May 2023 at the GENTIS Testing Center.
After a three-month approval process, the paper was published in the Vietnam Medical Journal on August 30, 2023. This prestigious journal is highly regarded and widely read both within and outside the medical community.
Congenital metabolic disorders are rare genetic conditions in children caused by deficiencies in receptors, enzymes, transport proteins, or co-factors in the metabolism of amino acids, fatty acids, and organic acids. This leads to abnormal changes in the synthesis or degradation pathways of substances in the body, resulting in toxic products that cause cytotoxicity and impair organs’ functions.
Metabolic disorders often go undetected due to the lack of clear symptoms in the early stages of a newborn's development. Consequently, when clinical symptoms appear, it is often too late, leading to mild to severe neurological dysfunctions, developmental delays, and even death.
Therefore, newborn screening for metabolic disorders is crucial for early diagnosis, timely treatment, improving quality of life for patients, and reducing burdens on families. Advances in mass spectrometry technology, particularly tandem mass spectrometry (MSMS), have made screening more affordable, sensitive, and specific. The Neobase 2 kit running on the XEVO TQD system based on the MSMS technique uses dried blood spots from heel pricks to screen for multiple metabolic disorders quickly and accurately.
The XEVO TQD liquid chromatography-mass spectrometry system by Waters is IVD-certified, offering high reliability, sensitivity in monitoring MRM transitions, rapid switch rates, and cost efficiency for laboratories. The NeoBase 2 Non-derivatized MSMS kit by Perkin Elmer can screen for 77 different congenital metabolic disorders. Before integrating the kit into screening for metabolic disorders on the XEVO TQD, method validation is required. Thus, aim of the study is: “Applying CLSI's NBS04 guideline in validating the method for quantifying some amino acids and acylcarnitines on dried heel blood samples using the NeoBase 2 kit on the XEVO TQD machine.”
The XEVO TQD liquid chromatography-mass spectrometry system by Waters is IVD-certified, offering high reliability
The report by GENTIS and the University of Public Health demonstrated that the MSMS method for analyzing amino acids and acylcarnitines using the Neobase-2 kit on the Xevo TQD system provides acceptable linearity, precision, and accuracy, ensuring reliability for neonatal screening services.
“A Verification method in Newborns Screening of Metabolic Disorders by the NEOBASE 2 MSMS KIT using XEVO TQD” is a significant scientific achievement contributed by the R&D team at GENTIS and experts at the University of Public Health to the national medical field. Particularly, the MSMS method for screening congenital metabolic disorders has proven accurate and reliable under the practical conditions of the GENTIS Testing Center, supporting clinical practices in screening various congenital metabolic disorders.
Sharing about this achievement, Pham Dinh Minh, PhD. said: “GENTIS prioritizes ensuring the highest quality of tests. Therefore, validating methods before introducing new equipment is indispensable.”
With the desire to contribute more to the development of the national medical field, GENTIS will strive to conduct more research, bringing quality and meaningful scientific papers in the future.
Read the full scientific paper published in the Vietnam Medical Journal here:
https://tapchiyhocvietnam.vn/index.php/vmj/article/view/6528/5834
