Principles
The diagnosis of a genetic disease requires a
systematic approach that takes clinical and
genetic considerations into account. Whereas
clinical medicine tends to classify diseases according
to organ system, age of onset, gender,
or primary method of detection (radiology,
imaging techniques), medical genetics, like
pathology, is oriented towards the basic cause
or lesion, in this case the gene or genes affected
by a relevant genetic change. Genetic diagnosis
is based on an interdisciplinary analysis of all
clinical and laboratory data from a genetic perspective.
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