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DNA test - what is it who should do it?

DNA test - examination enabling the reading of genetic information, which carrier is deoxyribonucleic acid (DNA). Genetic tests are very widely used in medicine - they play a huge role in, inter alia, the diagnosis of genetic diseases, as well as in their prevention. They are also considered to be one of the most sensitive and reliable diagnostic methods.
Dansk DNA Test service for private – Bedste DNA testning 2020

What is a DNA test?

A DNA test involves the analysis of genetic material to read the genetic information it contains. This type of genetic testing allows the detection of genetic changes (polymorphisms, mutations) - these changes affect the state of human health. They are passed on to offspring by parents or appear de novo - these changes determine, among others, the occurrence of genetic diseases, predispositions for their development in the future or the body's response to the drugs used. Based on DNA analysis, it is even possible to develop an ideal diet to suit your body's needs.
Genetic tests are recognized by specialists as a method with very high sensitivity (over 99%) and reliability - a false positive or false negative result is very rarely obtained. The material required to perform the analysis is usually obtained from blood or saliva - after isolating it from a sample of biological material, it is subjected to thorough analysis using such techniques as Sanger sequencing or NGS sequencing.
The great advantage of a DNA test is that you only need to do it once in a lifetime (at any time) - each of us never changes, so the result is always valid. There are also no contraindications to perform the test, because the result does not depend on the patient's current state of health.

Carrier DNA test

Carrier testing is another type - it is performed to identify people who are carriers of mutations associated with the occurrence of inherited diseases in an autosomal recessive manner. For this type of disease, the term carrier is a person who only mutates one of two copies of the same gene - they usually don't have any symptoms of the disease. However, the disease can develop in the offspring because of the autosomal recessive inheritance model. This means that the child will get the disease when two mutated versions of the same gene are passed to him - one from the mother and the other from the father. The risk of giving birth to a sick child in the case of confirmation of carrying a given disease in both parents is 25%. However, if the carrier is only one of the parents, the child will definitely be born healthy, but also may be a carrier (the risk is 50%). Among the inherited autosomal diseases, cystic fibrosis (associated with the abnormal CFTR gene), congenital hearing loss (caused by the defective GJB2 gene) or phenylketonuria (associated with the PAH gene mutation) are mentioned recessively. Carrying test is recommended for people planning pregnancy - thanks to that it will be possible to estimate the risk of having a sick child. In particular, this type of examination should be carried out on persons whose families already had diseases inherited in an autosomal recessive manner. In addition, the test must be carried out when the carrier of the disease has already been confirmed for one of the future parents.