Saidu Kasimu*, Muhammad Bashiru Abdulrahman, Mohammed Mansur B Kebbi
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.