Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.

August 01, 2021

Gburek-Augustat J1 2 3, Schoene-Bake JC2 4, Bültmann E5, Haack T6, Buchert R6, Synofzik M7, Biskup S;8, Feuerhake F9, Sorge I10, Hartmann H2a


New genetic testing technologies have revolutionized medicine within the past years. It is foreseeable that the development will continue with the introduction of new techniques. Nevertheless, despite improved technology, an exact clinical description of the phenotype is still necessary and it is important to critically question findings, both before initiating genetic testing and when interpreting the results. We present four brief case vignettes to point out difficulties associated with correctly interpreting genetic findings.