What is DNA Testing

DNA testing can also be called genetic testing. It’s a series of tests performed on a sample of blood, hair, amniotic fluid (in pregnant women), or other tissues. This type of test identifies changes in body proteins, chromosomes, and genes. The test result often confirms or rules out the likelihood of a genetic condition or helps determine an individual’s chances of developing a genetic disorder. 

For this procedure, sample specimens are obtained from the person and sent to a laboratory where qualified technicians look for specific changes in chromosomes, DNA, or body proteins. A change or mutation in any of these cell fragments often detects a genetic disorder. Before you get DNA testing done, you need first to get referrals from a doctor, or you can choose to go directly to the testing facility. If requested, the laboratory reports the test results to your doctor, a genetic counselor, or the patient. If you don’t want to go all the way to laboratories to carry out tests, you can order blood draw services offered by a licensed mobile phlebotomist. 

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Before a person gets a DNA or genetic test, it is important to first do proper research to understand the testing procedure, benefits and disadvantages of the tests, and also possible consequences of the results. After undergoing the test procedures, people who test positive or are at risk of certain genetic disorders are encouraged to seek advice from a genetic counselor or any suitable health care provider in good testing facilities. 

What Changes Does DNA Testing Look For?

Genetic testing usually screens for some changes or mutations caused by certain disorders. They specifically lookout for changes in proteins, chromosomes, and genes. 

  • Proteins: Genetic tests monitor the amount or activity level of proteins or enzymes and detect changes in the genetic arrangement of proteins or nucleotide bases. Abnormalities in either the arrangement or activity level of these proteins indicate changes in the DNA structure, resulting in a genetic disorder.
  • Chromosomes: Chromosomal genetic tests inspect chromosomes or an entire DNA length to check for significant genetic changes that can cause a genetic condition like an extra copy of the chromosome.
  • Genes: Tests carried out on genes specifically study DNA sequences to identify different mutations or variations in genes that can increase the risk of genetic abnormalities. Gene tests can often be narrow or large in scope to inspect each DNA building block, one or more genes, or all of an individual’s DNA. 

Different Types of DNA Tests

Many types of tests are carried out to analyze changes in some genetic structures. To pick the appropriate test, a health care professional considers factors like the suspected conditions and genetic variations associated with such conditions. The types of genetic tests are 

  • Molecular Tests

These types of tests look for changes in multiple genes. It detects and determines the order of DNA building blocks in a person’s genetic code; this process is called DNA sequencing. This test has a different procedure under it. 

A professional can perform targeted single variant tests to look for a specific variant in one gene. Single gene tests could also be done to look for genetic changes in a specific gene. Whole-genome sequencing tests can also be done to analyze the entirety of an individual’s DNA to fish for variations.

  • Chromosomal Tests

This test procedure examines whole chromosomes and the entire length of DNA to point out large-scale changes to the DNA sequence. Mutations to this sequence can include an extra or missing chromosome copy like trisomy or monosomy, additions (duplication) or deletion of a large piece of the chromosome, or rearrangement of segments of chromosomes (translocation). 

  • Gene Expression Tests

These lookout for genes that have been switched on or off in different types of cells. When a gene is activated, the cell produces mRNA to copy and make blueprints of protein molecules. These tests study the mRNA in these cells to identify the genes that have been activated. Overexpression or under-expression of some genes can suggest some specific genetic disorders.

  • Biochemical Tests

These indirect tests for DNA by studying the amount or level of activity of proteins or enzymes produced by genes. Abnormalities in these proteins indicate genetic disorders. 

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