Background: Genetic testing is opening own venue in different branches of medicine, even in our country. There are many applications of testing including newborn screening, diagnostic testing, carrier testing, preimplantation genetic diagnosis, prenatal diagnosis, predictive and presymptomatic testing, pharmacogenomics and forensic and paternity testing. For children, there are some limitations about these tests. Several methods can be used once a person with a genetic disorder decides to proceed with genetic testing; chromosomal analysis and/or DNA testing and/or biochemical genetic tests may be applied to determine the cause of his/her disease. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid or other biological specimens. The laboratory reports the test results to the physician or genetic counselor. Discussing with a geneticist or genetic counselor could be helpful about the pros and cons of the test. In the other hand, knowing the basics of genetic reports is essential to physicians for communicating with the lab and geneticist and managing the disease.