LEADER 04098nam 2200961z- 450 001 9910566479203321 005 20220506 035 $a(CKB)5680000000037588 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/81235 035 $a(oapen)doab81235 035 $a(EXLCZ)995680000000037588 100 $a20202205d2022 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aGenetic Testing for Rare Diseases 210 $aBasel$cMDPI - Multidisciplinary Digital Publishing Institute$d2022 215 $a1 online resource (144 p.) 311 08$a3-0365-3728-7 311 08$a3-0365-3727-9 330 $aRare 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. 606 $aMedicine and Nursing$2bicssc 610 $aACTG1 610 $aAltaians 610 $aataxia 610 $abioinformatics 610 $achild 610 $aclinical genetics 610 $aDFNA5 610 $aDFNB4 610 $adystonia 610 $aearly onset ataxia 610 $afamilial hearing loss 610 $agenetic counselling 610 $agenetic diagnosis 610 $agenetic testing 610 $agrowth hormone deficiency 610 $aGSDME 610 $ahearing loss 610 $aHMG-CoA lyase deficiency 610 $aHMGCL 610 $aHMGLD 610 $aimprinting disorder 610 $ainborn errors of metabolism 610 $ainherited metabolic diseases 610 $ainherited retinal diseases 610 $ainsulin-like growth factor 1 610 $alysosomal disorders 610 $amosaicism 610 $amultiple diagnoses 610 $aMYH9 610 $an/a 610 $anetwork analysis 610 $aneurodevelopment 610 $aneuromuscular disease 610 $anext generation sequencing 610 $aNGS 610 $anon-syndromic hearing loss 610 $aphenotype 610 $apituitary microadenoma 610 $aPrader-Willi syndrome 610 $aprofessional recognition 610 $arare diseases 610 $arecombinant human growth hormone 610 $aretina 610 $aring chromosomes 610 $aRussia 610 $asingle-exon CNV 610 $aSLC26A4 610 $aSouthern Siberia 610 $asyndrome 610 $aTurner syndrome 610 $aTuvinians 610 $awhole exome sequencing 615 7$aMedicine and Nursing 700 $aMilla?n$b Jose?$4edt$01314113 702 $aMilla?n$b Jose?$4oth 906 $aBOOK 912 $a9910566479203321 996 $aGenetic Testing for Rare Diseases$93031721 997 $aUNINA