Genetic diagnostic methods

Genetic analysis, in other words, the molecular genetic diagnosis, genetic disorders or risk factors that individuals bear the nationality individuals and / or family members provided DNA, RNA, chromosomes, proteins, or a number of the report is to be evaluated by biochemical analysis of metabolites. In this sense, according to the intended application of genetic analysis carried out in a single sample and can be composed of a single test, many specimens and can also include a series of different tests. However, high-tech and knowledge required in practice due to the accumulation of genetic testing, the analysis is strictly relevant and meaningful interpretations of the tests made in this regard requires that the original trained expert staffs.


The tests examined the nature or scope of the analysis of genetic material is divided into four groups according to the type of analysis. Direct tests , which make up the person's genetic material, DNA or RNA PCR, RFLP analysis or direct sequencing methods such as contains. Correlation tests (linkage testing), the main disease Investigation of genetic factors which make up the easier or less time-consuming, but it shows the transition known hereditary disease genes associated with the analysis of signs. Biochemical tests, metabolic disorders resulting from the diseased genes accumulated in body tissues or fluids, or the gene product of some metabolites made by qualitative or quantitative analysis to look at in terms of the proteins. cytogenetic tests that led to the genetic disease, genetic or chromosomal anomaly of chromosomes containing structural, numeric, or in terms of a partial examination of the content.

Genetic analysis of other routine laboratory tests, and contain some similar elements, these tests are different in many ways. Genetic analysis of the largest differences, such as other routine tests in the diagnosis of a case, not only the patient is still symptomatic patients with the broadest meaning of that bear has become apparent, or not come yet report is that all the hereditary diseases and risk factors. In this sense, genetic analysis for physicians to monitor patients or for individuals making personal decisions, such as having children in terms of contribution to all the other test methods provide a very, very far beyond.



The second factor that distinguishes the genetic analysis of the results of the analysis is only limited to individual patients, but also the reflection of other family members. For example, within the framework of genetic counseling is a required report of test results of genetic analysis, as well as in absolute terms about the person and their family members informed about the results obtained, if necessary, follow-up of patients, family and medical aspects of the affected individuals will be appropriate submission should also include recommendations on psychological services.

Many genetic diseases are rare, in fact than the results in terms of a definitive diagnosis can not be ignored for both individuals and families as important. Therefore, genetic analysis of the major laboratories should be experts in this area only. However, health care workers to patients and best able to provide a complete service, but genetic analysis and molecular medicine in the rapidly developing and it is possible to follow developments closely. After all, the genetic analysis to be meaningful and accurate results, sometimes more than one test is done using different methodologies, the testing of other family members or you may need to consult a medical genetics specialist subject.



For the purposes of the application of genetic analysis in humans can be divided into three main groups: 1)  Clinical genetic analysis , 2)  genetic analysis of the survey , and 3)  genetic analysis of the experimental purpose .

Clinical genetic analysis of samples collected from individual applications and / or family member follow-up of clinical aspects, diagnosis or treatment and are reported in writing to be examined. Another application of genetic analysis in clinical genotyping in clinical or forensic purposes, or paternite Maternite tests. Centers engaged in clinical testing of genetic analysis in the United States and CLIA ( Clinical Laboratory Improvement Amendments ) and comply with the terms of the CDC ( Centers for Disease Control and Prevention ) must be approved by. Although not an authority equivalent to that in our country who practice this type of centers licensed by the Ministry of Health. It is natural that a certain clinical genetic analysis is free of charge as a service purchased. However, this analysis are reported time and cost analysis, and analysis of the laboratory tests made ​​within the scope will vary according to quality and quantity. Here, in general, simple advice to consumers but not enough results or unnecessarily time-consuming tests are extremely complex avoidance extent possible.

Analysis to investigate the genetic diagnosis of pre-placed the original in other ways, from one individual or a group of individuals having similar symptoms or findings that the samples collected to better understand the medical phenomenon or a clinical genetic analysis of this method is more effective for clinical cases are reviewed to determine. Outside the scope of standard services for the genetic analysis of the survey of licensed centers and are usually financed by their own self-reports are not usually done. In case of an individual's request for the person giving the sample, however, the potential clinical significance of the results validated by standard methods if the individual is announced in an official report. In addition, for samples to be used in order to investigate the genetic analysis of individuals there can be no other demand or the result of a follow-up. On the other hand, the results of the analysis should not be exposed to third parties duyurulamaz individuals participated in the survey.



Genetic analysis of experimental tests carried out under the scientific validity as yet unproven, or for diagnosis or follow-up results of clinical cases not yet assumed the applications that focus. Enter the scope of future clinical tests of this type, such as genetic analysis also can be abandoned. Therefore, the fact that this type of test results by sending a written notification to individuals who provided the analysis is left to the discretion of the institution. However, the findings are reported by the institution or service to be covered by this type of analysis for a fee, in case the tests must be made ​​in accordance with the terms of the license

Understandably so, for research or experimental purposes rather than genetic analysis of technical service centers in producing R & D (research and development) activities carried out within the scope of projects. This rada Our first goal is to investigate the clinical introduction of genetic analysis applications, or more if desired for experimental purposes in genetic analysis. However, this type of analysis can provide opportunities for both individuals and physicians, researchers should not be overlooked in any way