title: Gamut of genetic testing for neonatal care.
abstract: The field of clinical genetics has advanced at an unprecedented pace. Today, with the aid of several high-resolution and high-precision technologies, physicians are able to make molecular genetic diagnoses for many infants affected with genetic disease. It is imperative, however, that perinatologists and neonatologists understand the strengths and limitations of genetic testing. This article discusses the different genetic testing options available for perinatal and neonatal diagnostics, along with their clinical utilities and indications. From variant-specific testing to whole-exome and genome sequencing, the article covers the whole gamut of genetic testing, with some thoughts on the changing paradigm of medical genetics.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA.
authors.forename: Arunkanth
authors.initials: A
authors.lastname: Ankala
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA. Electronic address: mhegde@emory.edu.
authors.forename: Madhuri R
authors.initials: MR
authors.lastname: Hegde
mesh_terms: D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008967:Molecular Biology / Q000379:methods*
keywords: Clinical genetics; Exome sequencing; Genetic testing; Neonatal diagnostics; Perinatal diagnostics