Gamut of Genetic Testing for Neonatal Care

被引：5

作者：

Ankala, Arunkanth ^{[1
]}

Hegde, Madhuri R. ^{[1
]}

机构：

[1] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA

来源：

CLINICS IN PERINATOLOGY | 2015年 / 42卷 / 02期

关键词：

Genetic testing; Perinatal diagnostics; Clinical genetics; Neonatal diagnostics; Exome sequencing; MUTATION; DIAGNOSIS; GENOME; EXOME; ARRAY; MICRODELETION; MICROARRAY;

D O I：

10.1016/j.clp.2015.02.001

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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.

引用

页码：217 / +

页数：11

共 50 条

[41] How to effectively utilize genetic testing in the care of children with cardiomyopathies [J].

Russell, Mark ;

Roberts, Amy E. ;

Abrams, Dominic J. ;

Murphy, Anne M. ;

Towbin, Jeffrey A. ;

Chung, Wendy K. .

PROGRESS IN PEDIATRIC CARDIOLOGY, 2015, 39 (01) :3-11

[42] Genetic Testing Consent and Result Disclosure for Primary Care Providers [J].

Faucett, W. Andrew ;

Peay, Holly ;

Coughlin, Curtis R., II .

MEDICAL CLINICS OF NORTH AMERICA, 2019, 103 (06) :967-+

[43] The value of diagnostic testing for parents of children with rare genetic diseases [J].

Marshall, Deborah A. ;

MacDonald, Karen V. ;

Heidenreich, Sebastian ;

Hartley, Taila ;

Bernier, Francois P. ;

Gillespie, Meredith K. ;

McInnes, Brenda ;

Innes, A. Micheil ;

Armour, Christine M. ;

Boycott, Kym M. .

GENETICS IN MEDICINE, 2019, 21 (12) :2798-2806

[44] Hearing the Noise The Challenges of Human Genome Variation in Genetic Testing [J].

Mestroni, Luisa ;

Taylor, Matthew R. G. .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2011, 57 (23) :2328-2329

[45] The role of genetic testing in dyslipidaemia [J].

Berberich, Amanda J. ;

Hegele, Robert A. .

PATHOLOGY, 2019, 51 (02) :184-192

[46] Economics of Genetic Testing for Diabetes [J].

Naylor, Rochelle .

CURRENT DIABETES REPORTS, 2019, 19 (05)

[47] Genetic Testing in Neurodevelopmental Disorders [J].

Savatt, Juliann M. ;

Myers, Scott M. .

FRONTIERS IN PEDIATRICS, 2021, 9

[48] Genetic testing in cardiovascular diseases [J].

Hofman, Nynke ;

van Langen, Irene ;

Wilde, Arthur A. M. .

CURRENT OPINION IN CARDIOLOGY, 2010, 25 (03) :243-248

[49] Genetic testing for familial hypercholesterolemia [J].

Zhang, Yiyi ;

de Ferranti, Sarah D. ;

Moran, Andrew E. .

CURRENT OPINION IN LIPIDOLOGY, 2024, 35 (02) :93-100

[50] Genetic testing for familial melanoma [J].

Primiero, Clare A. ;

Maas, Ellie J. ;

Wallingford, Courtney K. ;

Soyer, H. Peter ;

Mcinerney-Leo, Aideen M. .

ITALIAN JOURNAL OF DERMATOLOGY AND VENEREOLOGY, 2024, 159 (01) :34-42

← 1 2 3 4 5 →