Revolutionizing genetic diagnostics: Innovative techniques for inherited disease detection

Abstract

Genetic inheritance refers to the process by which traits and characteristics are passed from one generation to the next through the transmission of genetic information. This information is stored in the form of DNA (deoxyribonucleic acid), which is organized into structures called genes. Genetic hereditary disorders can be broadly classified into four categories on the basis of mode of inheritance and location of genes or chromosomes, they are: x-linked dominant, x-linked recessive, autosomal dominant and autosomal recessive. A specific diagnostic method is necessary for the diagnosis of inherited disorders. For instance, ARMPCR (amplification refractory mutation system polymerase chain reaction) is used to identify sickle cell anaemia, Breast cancer by crisper technology, and HIV (human immunodeficiency virus) can be detected by sandwich ELISA (enzyme linked immunosorbent assay) test. Mutation on FMR1 alleles in Fragile-X syndrome can be determined by TP-PCR (Triplet Repeat Primed-Polymerase Chain Reaction). Alteration on FBN1 gene in Marfan syndrome can be identified by a FISH (fluorescence in situ hybridization) test. All these tests are highly specific in nature, which depend upon genomic sequences, temperature, blood count and many more. To get a deeper comprehension of hereditary problems, we have expanded on a numerous methods and diagnostic criteria in this study. This study discusses many techniques for quickly and precisely identifying genetically inherited disorders.