Genetic Testing is carried out to examine the diseases that take place in your body. Doctors usually prescribe this testing at genetic counseling to know about the nature of the disease. Now, you must be wondering what is genetic counseling? Well, Genetic counseling is a session where the counselor does a proper diagnosis based on your symptoms and prescribes you proper treatment.

A pediatrician mostly recommends genetic testing for a child who experiences delays in cognitive development and disabilities. With this, the children who have multiple anomalies in various organs and those with structural birth defects must also go for genetic testing.

In this article, we will discuss the important things about genetic testing.

An Overview Of Pediatric Genetics

Pediatric genetics refers to the analysis and diagnosis of genetic syndromes and rare diseases that are found in children. Thus, an early diagnosis is referred better for the early recovery of your child from such diseases.

Moreover, pediatric genetics includes every single aspect of genetics like community genetics, behavioral genetics, clinical genetics, biochemical genetics, hereditary or syndromic cancer genetics, molecular genetics, formal genetics, reproductive genetics prenatal diagnosis, or the molecular embryology of birth defects, etc.

How Are Genetic Disorders Inherited?

The genetic disorder is mainly inherited in the body due to the mutation that takes place either in single or both copies of a nuclear gene. There are also some other ways in which these disorders are inherited such as:

  1. Mitochondrial

The mitochondria are mainly found in each cell of the body and are responsible for converting the molecules into energy. Since mitochondria consist of a small amount of DNA, mitochondrial disorders are formed by the mutation of DNA.

Therefore, such mutations could only be shared by the females to their eggshells that may result in the Leber hereditary optic neuropathy (state of vision loss).

  1. Autosomal Dominant

In this disorder, both the male and female could be affected, and it requires a single copy of the mutated gene. Therefore there are 50% chances that the risk could be transferred to your children if you already have an autosomal dominant disorder.

  1. X- Linked Dominant

The mutation in female chromosomes, X can cause the X-linked dominant disorders. Therefore, it is said that the males could not pass on the trait to their sons. Whereas, females could easily pass on the trait if there are two X chromosomes.

This means that a mutation in the single copy can be enough to cause the disease.

  1. Y-linked Disorder

Y chromosomes are only present in males that means the males could only pass such disorders. It makes it very clear that a male child will receive this disorder from their father. Also, the major examples of Y- Y-linked disorders include Swyer syndrome, Y chromosome infertility, and many more.

The Bottom Line

With the above-stated lines, we could conclude that genetic testing is very important for treating diseases like developmental disabilities or the delay in motor, speech, and cognitive function. Therefore, you must take your treatments seriously to heal from the diseases quickly.

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