TY - BOOK ID - 134264273 TI - Genetic Testing for Rare Diseases PY - 2022 PB - Basel MDPI - Multidisciplinary Digital Publishing Institute DB - UniCat KW - Medicine KW - retina KW - inherited retinal diseases KW - syndrome KW - Turner syndrome KW - mosaicism KW - ring chromosomes KW - growth hormone deficiency KW - pituitary microadenoma KW - clinical genetics KW - early onset ataxia KW - dystonia KW - neurodevelopment KW - network analysis KW - bioinformatics KW - ataxia KW - phenotype KW - child KW - NGS KW - next generation sequencing KW - inborn errors of metabolism KW - lysosomal disorders KW - neuromuscular disease KW - genetic testing KW - whole exome sequencing KW - Prader–Willi syndrome KW - imprinting disorder KW - recombinant human growth hormone KW - insulin-like growth factor 1 KW - HMGLD KW - HMGCL KW - HMG-CoA lyase deficiency KW - inherited metabolic diseases KW - familial hearing loss KW - multiple diagnoses KW - non-syndromic hearing loss KW - ACTG1 KW - MYH9 KW - genetic counselling KW - rare diseases KW - professional recognition KW - hearing loss KW - genetic diagnosis KW - SLC26A4 KW - DFNB4 KW - Tuvinians KW - Altaians KW - Southern Siberia KW - Russia KW - GSDME KW - DFNA5 KW - single-exon CNV KW - n/a KW - Prader-Willi syndrome UR - https://www.unicat.be/uniCat?func=search&query=sysid:134264273 AB - Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test. ER -