Genetic testing is an investigation of an individual's DNA, including, the RNA, metabolites, and proteins for the purpose of detecting and predicting genetic variations that may have potential for developing illnesses. A gene test is unlike any other tests. Its results are instrumental in shaping decisions as far as treatment and medical management are concerned.
It could be clinical in nature so as to examine the specimens and use the results-which are normally done in writing-for diagnosis, prevention or treatment. A gene test can also be a research in nature and the specimens are examined to have a better understanding of a condition, and to develop a specific clinical test. There are laboratories that use genetic testing investigatively, however, the results are not conclusive and generally accepted by other medical scientists.
The reasons for obtaining a genetic test vary widely. It could be to detect if an individual is carrying a defective gene or has a disease-carrying genes in his or her DNA makeup. If there is a particular disorder that runs within a family-from first to third generation-members of that family can predict their risks of developing such disorder through a gene test. To determine the efficiency of certain medications for diseases such as cancer, genetic testing is instrumental.
Contracting a cancer, whether hereditary or spontaneous is a reason enough to compel an individual or the whole family to test for risks or diagnosis. There are other diseases that when developed in a person, would prompt for a test. Included in such categories are diseases such as mental retardation, blindness or deafness, chromosomal abnormalities, and degenerative disorders.
Even couple or women who desire to have a pregnancy can benefit a lot from obtaining gene tests. Mothers who are 35 years and older should first get the test. If during conception, there exist abnormal results from fetal ultrasound or triple marker screen, a test is followed. Other reasons include having an ethnic background that is predisposed to genetic illness, being borne to parents of close biological relationships, having two or more pregnancy losses, having a family or personal history of a known-or suspected-genetic disorder, chromosomal abnormality, and birth defect. Mothers who are suffering from a medical condition that can affect the development of fetus can also benefit from getting a gene test.
Pediatric genetic testing is recommended for babies with abnormal newborn screening results, having abnormalities in growth, development delay and mental retardation, blindness or deafness, having one or more serious malformations in any organs in the body, having a presence of suspected or known genetic disorder or chromosomal abnormality, and being in family of a suspected or know genetic illness, birth defect, and chromosomal abnormality.
A specimen of an individual is needed to perform the genetic testing. This can be a blood sample, buccal swab, newborn heel stick, skin biopsy, organ biopsy, prenatal samples or organ biopsy. At times, a genetic consultation is a requisite to genetic test. A physician may be the one to order the said test upon a completion of genetic consultation.
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