Discussions on the uncertainty concept, traceability and the Joint Committee for Traceability in Laboratory Medicine appear in two separate chapters (by different authors) when the topics may have been better together in the chapter on Quality Management. Accreditation should have received a more detailed treatment and the IFCC-recommended ISO 15189 Standard rather than the ISO 9000 should have been discussed in this chapter. It has been common aspiration of clinical chemists that laboratory test results and reference intervals should be comparable and independent of the medical laboratory that produced them. This is the Holy Grail of clinical chemistry. As such, the concept of harmonization, which has been around for sometime, albeit somewhat in the background, should have received mention [1].
Tietz Fundamentals of Clinical Chemistry
As the definitive reference for clinical chemistry, Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 5th Edition offers the most current and authoritative guidance on selecting, performing, and evaluating results of new and established laboratory tests. Up-to-date encyclopedic coverage details everything you need to know, including: analytical criteria for the medical usefulness of laboratory procedures; new approaches for establishing reference ranges; variables that affect tests and results; the impact of modern analytical tools on lab management and costs; and applications of statistical methods. In addition to updated content throughout, this two-color edition also features a new chapter on hemostasis and the latest advances in molecular diagnostics.
Highly-respected author team includes three editors who are well known in the clinical chemistry world.
Reference values in the appendix give you one location for comparing and evaluating test results.
NEW! Two-color design throughout highlights important features, illustrations, and content for a quick reference.
NEW! Chapter on hemostasis provides you with all the information you need to accurately conduct this type of clinical testing.
NEW! Six associate editors, Ann Gronowski, W. Greg Miller, Michael Oellerich, Francois Rousseau, Mitchell Scott, and Karl Voelkerding, lend even more expertise and insight to the reference.
NEW! Reorganized chapters ensure that only the most current information is included.
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Background: Genetic diseases are rare single-gene Mendelian conditions, both congenital and hereditary, often causing severe disability and death early. Newborn screening is a population-based screening strategy for identifying neonates with metabolic, endocrine, and other problems for which early detection and treatment can avert severe consequences and symptoms. It is recognized as one of the most successful public health programs. The diagnosis of inherited genetic diseases requires specific biochemical and genetic tests, such as amino acid analysis, organic acid analysis, enzyme assay, and DNA analysis. The study aimed to review the role of clinical chemistry in screening genetic diseases in paediatrics supported by published data or derived from expert consensus.
Review: We searched for scientific websites like Medline, PubMed, Scopus, African Journals Online, Google Scholar and reference books. A systematic review of available literature on the role of clinical chemistry in newborn screening and managing inherited genetic diseases in paediatrics was done.
Conclusion: Therefore, the role of the clinical chemistry laboratory in the screening and diagnosis of genetic diseases is crucial, as it entails performing the correct test on the most appropriate sample type and correctly interpreting the test result.
In some cases, even if no effective treatment is available, it is critical to make a diagnosis [3]. Screening many newborns to discover abnormalities early and avert complications is technically and economically feasible [6]. The majority of the signs and symptoms of IEMs are caused by toxic metabolite buildup or metabolite shortages that are necessary for energy production [2]. Newborn screening can detect many metabolic disorders, allowing early initiation of treatment to prevent morbidity and mortality [5-7]. Many countries have instituted programs for screening all newborn infants for certain genetic metabolic disorders or congenital defects [3,8]. The diagnosis requires specific biochemical and genetic tests such as amino acid analysis, organic acid analysis, enzyme assay, and DNA analysis [2,5]. The role of the clinical chemistry laboratory in the diagnosis of IEMs is crucial, as it entails performing the correct test on the most appropriate sample type and correctly interpreting the test result [2]. Literature Review Genetics
Molecular genetics methods are currently used primarily as a backup for confirmation of positive results obtained using less expensive and more comprehensive biochemical or enzymatic methods, but as molecular methods become more cost-effective, high-throughput, and comprehensive, this situation may change. Beyond the simple diagnosis obtained by biochemical approaches, determining the actual mutations in the affected gene can provide further information about probable severity and medication response. Furthermore, as Next-Generation Sequencing (NGS) becomes more affordable, it is not unreasonable to believe that all babies will be subjected to a full-genome study at some point in the future [16]. Discussion Many screening tests used in evaluating metabolic disease use similar types of equipment available in clinical chemistry laboratories. What differentiate metabolic testing from routine testing in the laboratory are the compounds analyzed and their correlation to inborn errors of metabolism [2]. Metabolic abnormalities seen in various IEMs are not familiar to physicians requesting metabolic testing, and for this reason, most metabolic tests require an interpretation in addition to any quantitative results. Test reports should include the result, a differential diagnosis based on the abnormal and normal findings, and recommendations for further testing [2]. The report should include information about any testing needed and contact information for the person who wrote it in case questions arise. The results are interpreted correctly when clinical and relevant laboratory information is included with the test requisition. When the results point to various IEMs, it's essential to compare them to the patient's clinical and laboratory data to reduce the differential diagnosis and recommend the best follow-up tests [2,12]. Conclusion Scientific papers and relevant references are examined to evaluate the test's procedures and clinical utility. The laboratory defines the patient populations that the test would be used on, and also, the best test methods for the disease or analyte under investigation are chosen. It establishes or confirms the test performance specifications and the test's quality control parameters. The clinical chemistry laboratory plays a vital role in screening and diagnosing paediatric genetic conditions, which requires performing the correct test on the most appropriate sample type and correctly interpreting test results. Specific biochemical, enzyme activity and genetic tests are needed to confirm the diagnosis. Conflict of Interest None 2ff7e9595c
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