Genetic testing provides several advantages both to patients and physicians. The test can be done for diagnosis, prevention and treatment of certain disorders. It can also determine whether an individual has a gene that may bring illness and the chances of the illness to be passed on to the next generation. If the person has been diagnosed of a certain disease, the genetic test can be helpful in determining whether a specific therapy is efficient; if not, it will be helpful in choosing which treatment is best for a patient.
The lab personnel involved in gene tests are professionals trained in that field. They are certified to perform the test and interpret the results. During the test, the DNA is extracted and manipulated in many ways so the molecular pathologists or genetic technologists will be able to see the missing or mutating genes that cause a disease.
One method of manipulating the DNA is by cutting the genetic material into smaller pieces with the use of special enzymes. The smaller pieces are easier to test than the uncut material, and hence, contain the genes of interest. Another approach is to cut the DNA and apply it with agarose gel, which has been also applied with electrical field. The lab personnel will then observe the movements of the DNA on the gel. This approach is effective in determining causes for some mutations. Other methods of manipulations are sequencing, amplification or hybridization.
The results of the genetic testing are investigated and compared with the results from a normal individual, to see the differences between the genes and spot the causes of the disease.
In the modern science, scientists are able to identify certain illnesses that are caused by alterations in the DNA. The alterations can either be inherited or spontaneous. Diseases having a genetic component include the Alzheimer's disease, Down syndrome, Lupus, Pre-senilin mutation, Sickle Cell anemia, Thalassemia, Osteoarthritis, Leukemia, Cystic Fibrosis, Hemochromotosis, Bone Marrow disorders and some cancers such as breast, colon, and ovarian.
The genetic variations come from mutation. The said variations happen during the somatic cell division or mitosis, and meiosis, the cycle of division by which an egg or sperm cell has to go through. The variations can have different effects. They can be passed onto the next generations with more changes over the years or can result in a disease, or can have no apparent effect at all.
The genetic variations are classified into stable unstable genetic variation, genetic variation, silent genetic variation and other categories.
The unstable genetic variation happens when the nucleotide sequence is repeated several times. If the repeat increases, it is called expanded repeat, which is known to be a cause of many genetic illnesses including the Huntington.
The stable genetic variations are due to particular changes in single nucleotides. Also called as SNP or single nucleotide polymorphism, it can include insertions, substitutions, and deletions of nucleotides.
The silent genetic variations are alterations that do not result in any changes in the protein product of the gene, which rarely lead to an illness.
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