Genetic diagnosis allows understanding the genetic basis of inherited, and thus prevent transmission to offspring. In some cases the disturbance is very large and can be detected by cytogenetic study ( karyotype ) . Genetic alteration is frequently very small and require the use of molecular techniques that allow the analysis of a single DNA base .
Genetic material found in the nucleus of our cells (DNA ) was studied. The fabric of choice for DNA is generally Blood, for a cytogenetic ( karyotype ) Study or to study a specific region of DNA by different tests as sequencing , Polymerase chain reaction , Fluorescence In situ Hybridization.
In those individuals or families who are suspected of showing genetic disease. Often it tend to create uncertainty when planning to have children.
That is why it is recommended to consult a medical geneticist, the main reasons for consultation: