Types of Genetic Testing for Medical Purposes

genetic testing for medical conditions and health issues

Genetic testing is meant to check the change in the genetic makeup of individuals. It also involves structure, functional change in the protein-coding mechanism that involves a specific gene. Both DNA and RNA plays an essential role under some situations. In case of any abnormal testing, the results show that there is some change in the gene of that person, that could lead to the occurrence of illness or disease. That is why it is important to consider genetic testing for common medical conditions and issues.

Types of Chromosomal or Genetic Testing for medical reasons:

The Chromosomal studies:

In every cell within our body, DNA makes up the genes. DNA is the threadlike structure that keeps the unique feature of every individual. The anatomy of the chromosome is such that it must be strained to be seen with the help of a microscope. In strains, the light and the dark colour band of DNA are formed, which is easy to create and trace.

The chromosome count in any individual is 46, in the form of 23 pairs. This is known as a karyotype. In the case of females, the normal karyotype has 46 chromosomes and identical in the case of a normal male.

When the fair analysis and evaluation of the chromosomes is performed, it becomes evident that it is about the structure and number of the chromosomes. The standard accuracy, in this case, is around 99.9 percent. For analysis of the chromosomes, the blood sample is taken. In other cases, the biopsy of skin and sampling of different tissues. For analysis of the results, medical practitioners, and someone with a degree in genetics or cytogenetic technology are preferred.

In the case of a child who is born with congenital disabilities, a chromosomal test is performed. The same is also performed in case of any change in the genetic makeup diagnosed due to lymphomas and leukaemia or any other type of cancer in the body.

The studies on DNA:

On a chromosome, the gene is one section of DNA. DNA is a recipe that helps in the formation of required proteins for the body to perform necessary functions. To study the gene, the DNA has to be analyzed to check for any deformity in the body.

Mainly two processes are used for the DNA study purposes:

Direct study of DNA:

It means the study of direct DNA for analysis of any defects in the gene. The technology is known as PCR or FISH. Main errors of issues with DNA means replication of the DNA or gene, deletion or loss of any particular part of the gene, or any change in the single unit of DNA. It is essential to look for the mutation in the family which is causing gene mutation. For the same matter, one family member can be testing to diagnose the probable cause behind it. To study the DNA, it is essential that tests may be performed by taking a blood sample.

Indirect Study of DNA:

At the time, the gene that is causing mutation is too big to be highlighted. It involves using a marker to check if the person has inherited the disease from the infected person or not. The type of gene study is called linkage studies.

For the results, samples of different family members are taken for indirect testing. It includes all those with direct disorder and indirect disorder.

The result, once received, needs to be evaluated with the medical officer, and then a proper remedy or solution is planned.