Types of Genetic Testing for Hereditary Diseases

genetic testing for hereditary diseases

In the body of humans, every test contacts chromosomes in a total of 23 pairs. The chromosomes are responsible for the genetic makeup of the body. There are strains of deoxyribonucleic acid (DNA) in each chromosome, which consists of hundreds and thousands of genes.

Some of the genes are responsible for the proteins that make an essential component in the body of all humans. Structural proteins are responsible for bone and muscle formation. Some other protein is called enzymes that speed up the chemical reaction, including breaking down the food items we eat. Some are messengers that take the message to the brain for processing body functions, which are called hormones.

Individuals have the same gene, whereas the DNA formation is different in each human. Due to this difference in DNA formation, each individual has different skin color, hair, eyes, and other features. The change in the DNA formation due to any cause is called a mutation.

Types of Genetic Testing for Hereditary Diseases:

Diagnostic testing:

This testing is done to check any hereditary disease in any individual, especially when there are some symptoms and signs of any genetic diseases. For instance, any person having movement issue or disorder may be tested for “Huntington’s disease.” When the test is done, the doctor takes the required information to suggest the treatment, its management, and genetic counseling for the patient.

Genetic Screening test:

Not everything the disease comes with apparent symptoms or signs. Sometimes probability or risk of any person towards any illness is also studied. This is mainly true in hereditary diseases when parents suffer from any specific conditions and kids are examined for the probable symptoms.

Prenatal screening or testing:

This test is done for many women who are having pregnancy. Mainly for checking the presence of Down syndrome, especially in females over the age of 35, prenatal testing is done. The test is performed on chorionic villus or amniocentesis in the 14 to 20 weeks of pregnancy.

The screening for newborns:

In a routine check-up, the screening for newborns is done for many kids in different hospitals all across the globe. The primary disorders checked in this regard are phenylketonuria, CF (cystic fibrosis). In this regard, the blood sample is taken of the child to study the genetic mutation or any chances of a genetic disorder.

The medical officer immediately never goes for the tests or diagnosis. They first examine the body and issue in a clinical examination and get the family history to study the probability of any hereditary diseases. This way, doctors can analyze which gene can be the cause of illness in the child. Then the patient is taken to the genetic counselor for extracting more relevant information about the presence of the specific gene in the body.

It is true that all tests, no matter small or big, require a sample of DNA from the patient body. This is done either by taking a blood sample or through mouthwash. Then the sample is taken to the laboratory for analysis.