 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 | | 2005 | 0 | 1 | 1 | | 2006 | 1 | 1 | 2 | | 2007 | 0 | 2 | 2 | | 2009 | 1 | 0 | 1 | | 2011 | 1 | 2 | 3 | | 2013 | 1 | 1 | 2 | | 2014 | 3 | 2 | 5 | | 2015 | 4 | 3 | 7 | | 2016 | 2 | 1 | 3 | | 2017 | 5 | 4 | 9 | | 2018 | 1 | 1 | 2 | | 2019 | 5 | 4 | 9 | | 2020 | 2 | 1 | 3 | | 2021 | 1 | 3 | 4 | | 2022 | 2 | 0 | 2 | | 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Genetic Testing" by people in Profiles.
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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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Gaedigk A, Boone EC, Scherer SE, Lee SB, Numanagic I, Sahinalp C, Smith JD, McGee S, Radhakrishnan A, Qin X, Wang WY, Farrow EG, Gonzaludo N, Halpern AL, Nickerson DA, Miller NA, Pratt VM, Kalman LV. CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. J Mol Diagn. 2022 04; 24(4):337-350.
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Rush ET, Johnson B, Aradhya S, Beltran D, Bristow SL, Eisenbeis S, Guerra NE, Krolczyk S, Miller N, Morales A, Ramesan P, Sarafrazi S, Truty R, Dahir K. Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program. J Bone Miner Res. 2022 02; 37(2):202-214.
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Sharma S, Repnikova E, Noel-MacDonnell JR, LePichon JB. Diagnostic yield of genetic testing in 324 infants with hypotonia. Clin Genet. 2021 12; 100(6):752-757.
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Berrios C, Hurley EA, Willig L, Thiffault I, Saunders C, Pastinen T, Goggin K, Farrow E. Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care. Genet Med. 2021 12; 23(12):2289-2299.
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Singh R, Cohen ASA, Poulton C, Hjortsh?j TD, Akahira-Azuma M, Mendiratta G, Khan WA, Azmanov DN, Woodward KJ, Kirchhoff M, Shi L, Edelmann L, Baynam G, Scott SA, Jabs EW. Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay. Cold Spring Harb Mol Case Stud. 2021 06; 7(3).
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Thiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow E, Zellmer L, Miller N, Soden S, Saunders C. Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing. Cold Spring Harb Mol Case Stud. 2020 06; 6(3).
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Deignan JL, Chao E, Gannon JL, Greely HT, Hagman KDF, Mao R, Topper S. Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 08; 22(8):1285-1287.
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Farooqi MS, Figueroa S, Gotway G, Wang J, Luu HS, Park JY. Reinterpretation of Chromosomal Microarrays with Detailed Medical History. J Pediatr. 2020 07; 222:180-185.e1.
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