 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.
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
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| MeSH Number(s) |
E01.370.225.562 E05.200.562 E05.393.435 N02.421.308.430 N02.421.726.233.221
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| Concept/Terms |
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
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Below are MeSH descriptors whose meaning is more general than "Genetic Testing".
Below are MeSH descriptors whose meaning is more specific than "Genetic Testing".
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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 1 | 0 | 1 | | 2001 | 1 | 0 | 1 | | 2002 | 2 | 0 | 2 | | 2005 | 0 | 1 | 1 | | 2006 | 3 | 1 | 4 | | 2007 | 0 | 2 | 2 | | 2008 | 0 | 1 | 1 | | 2009 | 2 | 1 | 3 | | 2010 | 0 | 1 | 1 | | 2011 | 0 | 3 | 3 | | 2012 | 0 | 3 | 3 | | 2013 | 0 | 1 | 1 | | 2014 | 3 | 2 | 5 | | 2015 | 4 | 3 | 7 | | 2016 | 3 | 1 | 4 | | 2017 | 6 | 4 | 10 | | 2018 | 1 | 2 | 3 | | 2019 | 9 | 6 | 15 | | 2020 | 4 | 2 | 6 | | 2021 | 1 | 5 | 6 | | 2022 | 2 | 1 | 3 | | 2023 | 2 | 0 | 2 | | 2024 | 3 | 1 | 4 | | 2025 | 2 | 1 | 3 |
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Below are the most recent publications written about "Genetic Testing" by people in Profiles.
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Voss LA, Nevel RJ, Wambach JA, Nogee LM, Deterding RR, Casey AM, O'Connor MG, Craven DI, Taylor JB, Deutsch GH, Tam-Williams JB, Steffes LC, Brennan SK, Santiago MT, Sadreameli SC, Heras AF, Powers MR, Popova AP, Bansal M, Hamvas A, Gower WA, Urrego F, Young LR. Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases. Pediatr Pulmonol. 2025 Apr; 60(4):e71073.
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Scheinfeldt L, Kusic D, Gaedigk A, Turner AJ, Moyer AM, Pratt VM, Kalman LV. New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing: The Genetic Testing Reference Material (GeT-RM) Program PGx Search Tool and GeT-RM Consolidated PGx and HLA Table. J Mol Diagn. 2025 Jun; 27(6):457-464.
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Rush ET, Del Angel G, Dong J, Bates T, Steiner RD, Cox A. Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States. Mol Genet Metab. 2025 Mar; 144(3):109046.
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Gaedigk A, Turner AJ, Moyer AM, Zubiaur P, Boone EC, Wang WY, Broeckel U, Kalman LV. Characterization of Reference Materials for DPYD: A GeT-RM Collaborative Project. J Mol Diagn. 2024 Oct; 26(10):864-875.
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Cohen ASA, Berrios CD, Zion TN, Barrett CM, Moore R, Boillat E, Belden B, Farrow EG, Thiffault I, Zuccarelli BD, Pastinen T. Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations. Am J Hum Genet. 2024 05 02; 111(5):825-832.
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Saunders CJ, Brunelli L, Deem MJ, Farrow EG, Hegde M, Stark Z. More Than a Decade of Rapid Genomic Sequencing: Where Are We Now? Clin Chem. 2024 04 03; 70(4):577-583.
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Lee B, Nasanovsky L, Shen L, Maglinte DT, Pan Y, Gai X, Schmidt RJ, Raca G, Biegel JA, Roytman M, An P, Saunders CJ, Farrow EG, Shams S, Ji J. Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis. J Mol Diagn. 2024 05; 26(5):337-348.
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Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 12; 25(12):100947.
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Gaedigk A, Boone EC, Turner AJ, van Schaik RHN, Chernova D, Wang WY, Broeckel U, Granfield CA, Hodge JC, Ly RC, Lynnes TC, Mitchell MW, Moyer AM, Oliva J, Kalman LV. Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project. J Mol Diagn. 2023 09; 25(9):655-664.
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Pratt VM, Wang WY, Boone EC, Broeckel U, Cody N, Edelmann L, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Mitchell MW, Scott SA, Starostik P, Turner A, Kalman LV. Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project. J Mol Diagn. 2022 10; 24(10):1079-1088.
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