Abstract
Genotype of a person is very important factor in susceptibility to various diseases and its severity. Diseases are also caused by genetic mutations. Genetic disorders can be diagnosed based upon the physical appearance and family history of the person. Specific change in a person's DNA can be looked for diagnosing various disorders. Genetic tests are grouped into various types, which include diagnostic tests, carrier testing, prenatal tests, preimplantation tests, forensic testing, etc. Currently, karyotyping, fluorescence in situ hybridization (FISH), biochemical tests, and newborn genetic screening diagnostic tests are available. Developments in genetics and molecular biology and new methods and modifications in existing techniques have been researched. The present chapter emphasizes various techniques used in diagnosis of genetic diseases. It shows that the time required for these tests have been reduced with development in laboratory methods like FISH and quantitative fluorescence-polymerase chain reaction. This chapter also shows that noninvasive methods for genetic testing are equally accurate as invasive methods and can replace the latter as there is a risk to the fetus. Future advances in genetic testing promise to expand the range of conditions that can be detected. With these advances, there is need to ensure ethical and equitable use of genetic tests across the world.
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