Genetic Testing

"Genetic Testing" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.

Descriptor ID	D005820
MeSH Number(s)	E01.370.225.562 E05.200.562 E05.393.435 N02.421.308.430 N02.421.726.233.221
Concept/Terms	Genetic Testing Genetic Testing Testing, Genetic Testing, Genetic Predisposition Testing, Genetic Predisposition Predisposition Testing, Genetic Predictive Testing, Genetic Genetic Predictive Testing Testing, Genetic Predictive Predictive Genetic Testing Genetic Testing, Predictive Testing, Predictive Genetic Genetic Predisposition Testing Genetic Screening Genetic Screening Genetic Screenings Screening, Genetic Screenings, Genetic

Below are MeSH descriptors whose meaning is more general than "Genetic Testing".

Analytical, Diagnostic and Therapeutic Techniques and Equipment [E]
Diagnosis [E01]
Diagnostic Techniques and Procedures [E01.370]
Clinical Laboratory Techniques [E01.370.225]
Genetic Testing [E01.370.225.562]
Investigative Techniques [E05]
Clinical Laboratory Techniques [E05.200]
Genetic Testing [E05.200.562]
Genetic Techniques [E05.393]
Genetic Testing [E05.393.435]
Health Care [N]
Health Care Facilities, Manpower, and Services [N02]
Health Services [N02.421]
Genetic Services [N02.421.308]
Genetic Testing [N02.421.308.430]
Preventive Health Services [N02.421.726]
Diagnostic Services [N02.421.726.233]
Genetic Testing [N02.421.726.233.221]

Below are MeSH descriptors whose meaning is related to "Genetic Testing".

Below are MeSH descriptors whose meaning is more specific than "Genetic Testing".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Genetic Testing" by people in this website by year, and whether "Genetic Testing" was a major or minor topic of these publications.

Bar chart showing 65 publications over 21 distinct years, with a maximum of 8 publications in 2019

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2003	0	2	2
2004	2	1	3
2005	0	2	2
2006	1	0	1
2007	1	1	2
2009	2	0	2
2010	2	2	4
2011	4	3	7
2012	1	0	1
2013	1	2	3
2014	1	1	2
2015	1	2	3
2016	1	1	2
2017	1	2	3
2018	2	3	5
2019	5	3	8
2020	2	5	7
2021	0	1	1
2022	0	3	3
2023	0	2	2
2024	0	2	2

Below are the most recent publications written about "Genetic Testing" by people in Profiles.

Petkov VI, Byun JS, Ward KC, Schussler NC, Archer NP, Bentler S, Doherty JA, Durbin EB, Gershman ST, Cheng I, Insaf T, Gonsalves L, Hernandez BY, Koch L, Liu L, Monnereau A, Morawski BM, Schwartz SM, Stroup A, Wiggins C, Wu XC, Bonds S, Negoita S, Penberthy L. Reporting tumor genomic test results to SEER registries via linkages. J Natl Cancer Inst Monogr. 2024 Aug 01; 2024(65):168-179.

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Serrano-Gonz?lez J, Montes-Rodr?guez I, Renta JY, Rojas R, Cadilla CL. After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. Mol Genet Genomic Med. 2024 Jul; 12(7):e2493.

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Kilich G, Patel S, Hassey K, Weinberger T, Sullivan KE. Pitfalls of genetic testing in a patient with IKBKG deficiency. Ann Allergy Asthma Immunol. 2024 Oct; 133(4):481-483.

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Yamasato K, Ono A. Association between aneuploidy screening analytes and adverse outcomes in twin gestations. J Perinat Med. 2024 Jul 26; 52(6):586-590.

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Cragun D, Manso G, Arcusa SA, Zuniga B, Dutil J, Cruz M, Pal T. Piloting a Spanish-Language Web-Based Tool for Hereditary Cancer Genetic Testing. Curr Oncol. 2023 09 12; 30(9):8352-8362.

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Hori K, Hori K, Kosasa T, Walker B, Ohta A, Ahn HJ, Huang TTF. Comparison of euploid blastocyst expansion with subgroups of single chromosome, multiple chromosome, and segmental aneuploids using an AI platform from donor egg embryos. J Assist Reprod Genet. 2023 Jun; 40(6):1407-1416.

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Gutierrez MJ, Nino G, Sun D, Restrepo-Gualteros S, Sadreameli SC, Fiorino EK, Wu E, Vece T, Hagood JS, Maglione PJ, Kurland G, Koumbourlis A, Sullivan KE. The lung in inborn errors of immunity: From clinical disease patterns to molecular pathogenesis. J Allergy Clin Immunol. 2022 12; 150(6):1314-1324.

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Ballester V, Cruz-Correa M. Approach to Familial Predisposition to Colorectal Cancer. Gastroenterol Clin North Am. 2022 09; 51(3):593-607.

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Kelsen J, Dawany N, Conrad M, Patel T, Devoto M, Maurer K, Sullivan KE. Clinical and laboratory predictors of monogenic very early onset inflammatory bowel disease. Clin Immunol. 2022 07; 240:109047.

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M?ndez I, Fern?ndez AI, Espinosa M?, Cuenca S, Lorca R, Rodr?guez JF, Tamargo M, Garc?a-Montero M, G?mez C, Vilches S, V?zquez N, ?lvarez R, Medrano C, Yotti R, Fern?ndez-Avil?s F, Bermejo J. Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males. Open Heart. 2021 09; 8(2).

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