What is genetic testing? Types of genetic tests for children


One of the most modern genetic tests is the PlumCare DNA Advisor. It allows for early detection of predisposition to about 300 serious genetic diseases – mainly metabolic disorders, cardiovascular diseases and oncological diseases. This gives the opportunity to implement preventive measures and appropriate treatment. This type of genetic test can be carried out by anyone. It is enough to apply to the Polish Bank of Stem Cells.

What is genetic testing?

Genetic testing is a modern test which focuses on analysing a person’s DNA. More and more scientific discoveries confirm that predisposition to certain diseases is genetically determined or arises as a result of mutations. Genetic testing is therefore a valuable diagnostic tool. Depending on the type of test, it can be carried out during pregnancy or after the birth of the child.

Genetic testing involves analysing the baby’s genetic material. This can be obtained from the mother’s blood (prenatal tests), from the blood of the umbilical cord or from the baby’s saliva (tests carried out after birth). Specialists in a genetic laboratory then analyse the individual genes. The aim of the diagnosis is to detect the characteristic mutations that are responsible for the predisposition and development of the disease in question. It usually takes several weeks before the results of a genetic test are available.

Comparison of available genetic tests

Genetic tests that can be done to find out about your child’s health are:

  • PlumCare DNA Advisor testing – after birth
    PlumCare DNA Advisor genetic testing involves taking a sample of the baby’s cord blood or saliva after birth. The material is analysed in a genetic laboratory using the WES method (Whole Exome Sequencing), i.e. the whole exome is examined. This allows a very precise genetic evaluation and determination of the risk of occurrence of almost 300 diseases (predisposition to cancer, metabolic diseases, epilepsy, cardiovascular diseases, diseases of connective tissue). PlumCare DNA Advisor genetic test does not require taking blood from the mother or child.
  • PANORAMA test – before delivery
    The PANORAMA test involves drawing blood from the pregnant woman and then isolating the baby’s genetic material from it. It is analysed for chromosome abnormalities (trisomies – Down’s syndrome, Edwards’ syndrome, Patau syndrome and triploidy), microdeletions (e.g. cat scream syndrome, Angelman syndrome) and sex chromosome abnormalities (e.g. Turner syndrome, Klinefelter syndrome).
  • NIFTY test – before birth
    The NIFTY test involves isolating genetic material from the foetus from the mother’s blood and then analysing it for chromosome abnormalities. The test can detect the risk of Down’s, Patau’s and Edwards’ syndromes.

Comparison of available genetic tests

As you can see, only the PlumCare DNA Advisor genetic test is performed from the baby’s umbilical cord blood or saliva after birth (i.e. it is completely non-invasive) and allows early detection of predisposition to around 300 serious genetic diseases (the whole genome is analysed, not individual chromosomes). It is also the only test performed at birth. These are the main differences between the genetic tests available.

A prenatal test such as the PAPP-A test can also detect genetic defects. The main difference is that the material analysed is not DNA – the risk of abnormality is determined by the concentration of the PAPP-A protein and the free beta-hCG subunit in the pregnant woman’s blood. It is performed between the 11th and 14th week of pregnancy. The parents-to-be are informed whether their child may have trisomies, i.e. Down’s, Patau’s or Edwards’ syndrome. It is not possible to determine predisposition to other conditions.


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