Methods for carrying out genetic testing are developing at an unprecedented and unforeseen rate.
Simultaneously, the overall number of genes linked to rare diseases (RD) is increasing. This means that it is now possible to provide an etiological diagnosis for several thousand RD(or ‘Mendelian’ diseases).
Although accurate diagnosis enables specific treatment for only a minority of RD at present, the outcomes of genetic testing may allow a better understanding of their prognosis and in all cases clarify the origin of the disease (preventing further unnecessary clinical and laboratory differential diagnostic investigations), and elucidate the mode of inheritance, thereby facilitating life planning and reproductive choices for the entire whole family.
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