19955111 {19955111:9JYSMEDE} 1 Vancouver 50 Standard 4830 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
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1.
Solomon BD, Muenke M. Wann ist ein genetisches Syndrom zu vermuten? American Family Physician [Internet]. 2012 [zitiert am 27. Juni 2016];86(9):826. Verfügbar unter: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131944/

Der diagnostische Verdacht basiert auf 3 Säulen:

Es gibt verschiedene Diagnosestrategien, die in folgende Gruppen eingeteilt werden können:

Ungerichtetes Testen.

Dabei handelt es sich um Tests, bei denen das gesamte Genom untersucht wird. Sie werden auch als Genomtests bezeichnet. Es ist nicht erforderlich, dass ein spezifischer syndromaler Verdacht besteht, um darauf hinzuweisen, obwohl einige genomische Erkrankungen anhand des Phänotyps diagnostiziert werden können (z. B. das Down-Syndrom).

Gezielte Tests.

Dabei handelt es sich um solche, die die Identifizierung einer bestimmten Krankheit anstreben, normalerweise a monogenetische Erkrankung (das durch eine Mutation von nur einem Gen entsteht), wenn Das Krankheitsbild lässt sich nun anhand des Phänotyps orientieren.oder weil sie aufgrund der Art der Krankheit nicht durch ungerichtete Tests nachgewiesen werden kann. Zum Beispiel:

  • Neurofibromatose Typ I.
  • X-zerbrechlich. Es kann weder durch aCGH noch durch Massensequenzierung nachgewiesen werden, da es sich um eine STR-Erkrankung handelt.