Journal of Clinical Chemistry and Laboratory Medicine
Open Access
ISSN: 2736-6588
ISSN: 2736-6588
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, .. View More»
DOI:
10.35248/JCCLM.22.05.217