Genetic testing makes diagnosis, treatment and or prevention of a genetic disease easier and more precise than before its inception. By administering a Genetic test, there will be more room for alternative solutions, more chances of recovery and lesser risks. There are many types of Gene tests conductive depending on the goal of both the individual and the professional ordering the test.
Common Genetic tests are Diagnostic, Predictive, Carrier, Pre-natal, Pre-implantation, and Newborn. The definition and pointers for Diagnostic and Predictive testing have already been discussed earlier.
Moving forward, the Carrier test is especially helpful to individuals who have a gene mutation for a certain illness inherited in X-linked recessive or autosomal recesive. Most carriers do not manifest the symptoms relevant to the gene mutation. It is particularly recommended to individuals who have family members having a genetic disorder, family members of an identified carrier, and racial and ethnic groups to have a greater rate for a specific condition.
To recommend such type of Genetic testing especially to women who plan to have pregnancy, will bound to have other choices for reproduction. As it can have personal and social concerns, the Genetic test should be accompanied with counseling and education. Also, it can enhance risk assessment of members of ethnic and racial groups that are most likely to be carriers for specific genetic illnesses. However, in some situations, the DNA testing may not even be the primary way of identifying carrier status.
Women who are pregnant and would like to estimate the health status of a fetus may be given the Pre-natal testing. If the woman is at risk of giving birth to a child with a genetic disorder because of factors such as family history, maternal age, ethnicity, a Pre-natal diagnostic test is recommended. The routine Pre-natal Diagnostic test procedures are Chronic Villus Sampling or CVS and Amniocentesis. Other procedures are Fetoscopy with Fetal skin biopsy, Placental biopsy, and Periumbilical Blood Sampling or PUBS.
Among the points to consider in carrying the Pre-natal test are the identification of a laboratory that would perform the disease-specific test of interest before any of the Pre-natal diagnostic test is given, the presence of informed consent and genetic counseling before the Pre-natal diagnostic test is given as it can have an associated risk to the fetus and to the woman conceiving. There shall also be series of Follow-up transactions.
In addition, if the Pre-natal diagnostic test is for the purpose of determining in a fetus the risk of developing adult-onset disease, the couple seeking such test must first be referred to a professional has training and background in genetic counseling to discuss the relevant issues as the results can be very controversial. In most cases, however, the test procedures such as using molecular Genetic testing should come after the specific gene mutation is identified in an affected conceiving woman.
Genetic testing is helpful especially in individuals having a gene mutation that is indicative or having the nature of producing certain cancers.
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