A Genetic testing is the process of analyzing the DNA and RNA and components such as the chromosomes, proteins and some metabolites for the purpose of detecting any modifications that may be associated with a genetic disorder.
The Genetic test can be accomplished in many ways.
However, there are selected methodologies in conducting such tests, depending on which approach should apply. These methodologies are grouped into three, DNA-based methodologies, Molecular Cytogenetic methodologies, and Biochemical methodologies.
Composing the DNA-based approaches are the Direct DNA testing, Linkage testing, Methylation Studies, Protein Truncation test, Uni-parental Disomy, and X Inactivation studies.
Belonging to the Molecular Cytogenetic method is the Fluorescence In Situ Hybridization, while in Biochemical methods are Protein analysis, Enzyme assay, and Analyte.
If the professionals performing the Gene test do so by directly examining the DNA or RNA that makes up a gene, the professionals are doing the Direct testing methodology. If the professionals look at the markers that are co-inherited with an illness-carrier gene, they are following the procedure of the Linkage testing.
In Biochemical testing, the professionals assay specific metabolites. Cytogenetic testing is done by examining the chromosomes.
In Methylation Studies, the methylation status-the connection of methyl groups to the DNA molecules-of genes is analyzed. The Methylation Studies are particularly helpful in diseases in which the methylation patterns have influence on such diseases.
The Protein Truncation test determines mutations or alterations that curtail the protein product, and thus decrease or destroy the function of such protein.
In Uni-parental Disomy, the professionals shall determine the presence of Uni-parental disomy in the chromosomes, which can lead to developing genetic illness as the Uni-parental disomy refers to having two copies of the same chromosome pair derived from one parent, and none from the other parent.
X Inactivation Studies is done to determine the status of women who may be a carrier of a certain defective or illness-causing gene caused by non-random inactivation of one of the X chromosomes, and the effect is measured. In women, the X chromosome has two copies, and one of the chromosomes is by random, inactivated in each cell and does not reactivate.
To perform the Fluorescence In Situ Hybridization or FISH, a sub-microscopic piece of a chromosome is tagged with fluorescence and mixed with a cell nucleus to be tested. The tagged probed will connect to its match within the cell, which can be observed using a special lighting. In such process, the FISH is helpful in determining missing or additional chromosome material.
Within the Biochemical methodologies for Genetic testing are three approaches. In Protein Analysis, the objective of the professional performing such process is to view, infer or observe the structure of a protein. And if the protein structure is modified, an illness state is likely to occur.
The Enzyme assay calculates the rate of a certain chemical reaction in the presence of a protein-which is the enzyme-facilitating such reaction. The movement of the enzyme is appraised to estimate genetic disorder or carrier status of a particular illness relevant to such reaction.
Finally, the Analyte Genetic testing is to analyze the analyte, which is a substance found in a human body and which can be measured, to diagnose an illness. If the analyte is larger or smaller than normal, it may be an indication of a genetic disease.
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