[Early genetic testing in nephrology - a diagnostic aid in ambiguous clinical situations].
Despite a growing number of identified genetic causes of monogenetic disorders, early molecular testing is rarely applied in daily nephrologic practice. In selected cases and to answer specific questions, molecular testing however can be helpful for the specialist. The future significance of genetic testing most likely lies in the area of individual risk profiling for polygenetic disorders. The basis for this testing however has yet to be established.
Pasch
Andreas
A
Klinik und Poliklinik für Nephrologie und Hypertonie, Inselspital, Bern. andreas.pasch@insel.ch
D042241:Early Diagnosis; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics*; D015336:Molecular Probe Techniques; D009398:Nephrology / Q000379:methods; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D005819:Genetic Markers