Journal of Clinical Chemistry and Laboratory Medicine

Journal of Clinical Chemistry and Laboratory Medicine
Open Access

Muhammad Bashiru Abdulrahman

Department of Chemical Pathology and Immunology, Faculty of Basic Clinical Sciences, College of Health Sciences, Usmanu Danfodiyo University, Sokoto, Nigeria

  • Research Article   
    A Review on the Role of Clinical Chemistry in the Screening for Genetic Diseases in Paediatrics
    Author(s): Saidu Kasimu*, Muhammad Bashiru Abdulrahman and 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, .. Read More»
    DOI: 10.35248/JCCLM.22.05.217

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