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Updated: Feb 8, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing
M Elbracht1, R Meyer1, T Eggermann1
1Institut für Humangenetik, Uniklinik RWTH Aachen, Pauwelsstr. 30, 52074, Aachen, Deutschland.
Background:
New methods of molecular genetic diagnostics enable a more comprehensive genetic analysis of patients.
Objectives:
Rational use and benefits of molecular genetic testing in patients with various internal diseases.
Method:
Evaluation of topic-related literature, discussion of own experiences, as well as consideration of current guidelines.
Results:
New genetic tests, such as next generation sequencing (NGS), improve the diagnosis of hereditary diseases; however, the use of this technology also leads to additional findings, which must be carefully considered.
Conclusion:
The rational use of genetic tests is a benefit for patients and can significantly influence the prevention and treatment of a disease. The increasing complexity of genetic findings requires interdisciplinary approaches involving human genetics, internal medicine, and other disciplines.
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