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 112 publications over 28 distinct years, with a maximum of 10 publications in 2015

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

Year	Major Topic	Minor Topic	Total
1996	1	1	2
1997	1	0	1
1999	0	2	2
2001	2	1	3
2002	0	2	2
2003	1	3	4
2004	1	2	3
2005	0	2	2
2006	3	0	3
2007	0	1	1
2008	2	1	3
2009	3	1	4
2010	2	4	6
2011	0	3	3
2012	2	3	5
2013	4	3	7
2014	3	3	6
2015	5	5	10
2016	1	4	5
2017	3	6	9
2018	1	2	3
2019	3	4	7
2020	3	1	4
2021	0	7	7
2022	0	2	2
2023	1	1	2
2024	1	4	5
2025	1	0	1

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

Iacoangeli A, Dilliott AA, Al Khleifat A, Andersen PM, Basak NA, Cooper-Knock J, Corcia P, Couratier P, deCarvalho M, Drory VE, Glass JD, Gotkine M, Lerner YM, Hardiman O, Landers JE, McLaughlin RL, Pardina JSM, Morrison K, Pinto S, Povedano M, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc'h P, Weber M, Veldink JH, Dobson R, Rouleau GA, Al-Chalabi A, Farhan SMK. Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications. J Neurol Neurosurg Psychiatry. 2025 Sep 12; 96(10):928-936.

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Aimo A, Todiere G, Barison A, Tomasoni D, Panichella G, Masri A, Maron MS. Diagnosis and management of hypertrophic cardiomyopathy: European vs. American guidelines. Heart Fail Rev. 2025 Mar; 30(2):315-325.

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Best MC, Butow P, Savard J, Newson AJ, Campbell R, Vatter S, Napier CE, Bartley N, Tucker K, Ballinger ML, Thomas DM. From ownership to custodianship of tumor biopsy tissue in genomic testing: a mixed methods study of patient views. Oncologist. 2024 Sep 06; 29(9):e1169-e1179.

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Cragun D, Salvati ZM, Schneider JL, Burnett-Hartman AN, Epstein MM, Hunter JE, Liang SY, Lowery J, Lu CY, Pawloski PA, Schlieder V, Sharaf RN, Williams MS, Rahm AK. Identifying factors and causal chains associated with optimal implementation of Lynch syndrome tumor screening: An application of coincidence analysis. Genet Med. 2024 Oct; 26(10):101201.

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D'Gama AM, Wojcik MH, Hills S, Douglas J, Yu TW, Agrawal PB, Parker MG. "It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs. Genet Med. 2024 Sep; 26(9):101177.

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Fang T, Pacut P, Bose A, Sun Y, Gao J, Sivakumar S, Bloom B, Nascimento Andrade EI, Trombetta B, Ghasemi M. Clinical and genetic factors affecting diagnostic timeline of amyotrophic lateral sclerosis: a 15-year retrospective study. Neurol Res. 2024 Sep; 46(9):859-867.

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Bonaventura J, Rowin EJ, Chan RH, Chin MT, Puchnerova V, Polakova E, Macek M, Votypka P, Batorsky R, Perera G, Koethe B, Veselka J, Maron BJ, Maron MS. Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy. J Am Heart Assoc. 2024 May 21; 13(10):e033565.

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Wilkie GL, Nna U, Stuffers N, Johnson K. Prenatal aneuploidy screening and its impact on stillbirth etiology evaluation. Minerva Obstet Gynecol. 2024 Jun; 76(3):279-283.

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Dilliott AA, Al Nasser A, Elnagheeb M, Fifita J, Henden L, Keseler IM, Lenz S, Marriott H, Mccann E, Mesaros M, Opie-Martin S, Owens E, Palus B, Ross J, Wang Z, White H, Al-Chalabi A, Andersen PM, Benatar M, Blair I, Cooper-Knock J, Harrington EA, Heckmann J, Landers J, Moreno C, Nel M, Rampersaud E, Roggenbuck J, Rouleau G, Traynor B, Van Blitterswijk M, Van Rheenen W, Veldink J, Weishaupt J, Drury L, Harms MB, Farhan SMK. Clinical testing panels for ALS: global distribution, consistency, and challenges. Amyotroph Lateral Scler Frontotemporal Degener. 2023 08; 24(5-6):420-435.

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Pini S, Napoli FM, Tagliafico E, La Marca A, Bertucci E, Salsi V, Tupler R. De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy. Clin Genet. 2023 02; 103(2):242-246.

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