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How Does Gene Testing Work?



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By : Charles Godbout    29 or more times read
Submitted 2010-09-08 23:50:33
The Gene testing, the most recent and sophisticated technique used by researchers to determine genetic disease involves the direct investigation of the DNA molecule of the human body. There are also other types of gene testing including the biochemical tests for gene products like the enzymes, and some proteins. There are also microscopic investigations of fluorescent chromosomes or stained chromosomes.

Gene tests are generally used for carrier screening, pre-implantation genetic diagnosis, prenatal diagnostic test, newborn screening, verification testing to determine the risk of adult onset cancers and Alzheimer's disease, forensic and identity testing, and pre-symptomatic testing to predict disorders such as Huntington's among adults.

In carrier testing, the healthcare provider seeks to identify the unaffected patient who possibly carries one copy of a gene for an illness that needs two copies of genes in order for the illness to be expressed.

The pre-implantation genetic diagnostic tests or PGD are commonly done on embryos to screen for diseases. The PGD screens embryos in in vitro fertilization for genetic errors. To accomplish the PGD, the healthcare provider will take DNA samples from the embryos and analyze them for aberrant genes that can cause diseases.

Specialists of Fertility will use the results of the PGD test to choose solely mutation-free embryos for implantation into the uterus of the conceiving woman. Before the PGD test is administered, however, the couples who are at higher risks for conception with a specific illness would have to facilitate the pregnancy before undergoing chorionic villus sampling during the first trimester or amniocentesis during the second trimester to screen the fetus for the presence of the disorder.

If, for example, the fetus screened positive for the disease, the couple will face the decision on whether or not to terminate the pregnancy. The purpose of PGD is to ensure healthy babies conceived through in vitro fertilization. The PGD tests have been practiced for many years, however, only a few testing centers worldwide offer this procedure.

Pregnancy that is not initiated with in vitro fertilization can still have Gene testing done with prenatal diagnostic test. There is also the newborn screening for newly born infants. If, for instance, the individual starts to manifest symptoms of a particular disease, he or she may opt for verification testing or conformational diagnosis.

If cancers and Alzheimer's disease run in the family, the family members may wish to test their genes for possible presence of gene that carries the cancer or Alzheimer's. The gene testing can be used to predict the level of risks the individual may have.

There is also the appropriate pre-symptomatic screening to predict possible gene carriers of Huntington's disease. Should the individual be tested positive for the disease, he or she has the advantage of treating the disease at an earlier stage, considering that the diagnostic test has been done earlier as well. At any rate, the patient and the healthcare provider have enough time to devise the best drug treatment.

During the Gene testing, the scientists will look for any mutated sequences from the DNA sample obtained from the patient. Some scientists will make short pieces of DNA known as probes, which sequences complement the mutated sequences.

The probes will find their complement among the 3 billion base pairs of the person's genome. If the mutated sequence is detected in the person's genome, the probes will bind to it and flag it. Scientists will also compare sequences of DNA bases in a person's genome to a normal version of the genome.
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