Types of Genetic Testing

A look at the types of genetic testing available to individuals.

types of genetic testing

Genetic testing has gained some traction amongst consumers based on the promise of a precise mapping of users bodies, that can lead to more personalized medicine.

Investors may have seen commercials from successful genetic testing companies advertising the option for people to get a better knowledge of their family trees and their origins. However, that information can be used in the medical field too.

It is possible for patients to learn about genes in their body that could make it more likely to get a disease. Thanks to these tests it’s possible to learn about conditions a patient could be prone to have, however medical experts agree that these tests don’t indicate a full picture of patient’s condition and should not be cardinal law.

Here is a brief overview of some types of testing available.

Diagnostic testing

This test can find out a specific genetic or chromosomal condition for patients. Thanks to them, a patient may choose to alter their health and the questions they may have for their doctors. The Genetics Home Reference does indicate this test is not available to all genes or genetic conditions.

Predictive and presymptomatic testing

Thanks to this test patients can find gene mutations in themselves that would make it more likely to get a disease based on hereditary conditions. According to the description from the National Institutes of Health:

Predictive testing can identify mutations that increase a person’s risk of developing disorders with a genetic basis, such as certain types of cancer. Presymptomatic testing can determine whether a person will develop a genetic disorder, such as hereditary hemochromatosis (an iron overload disorder) before any signs or symptoms appear.

Newborn screening and Prenatal testing

There are two test designed for newborns – the newborn screening and the prenatal testing. As their names indicate the first is designed right after birth while the latter one is made before birth. Both can find genetic deficiencies in the body of a baby and can also detect diseases that affect newborns like phenylketonuria and congenital hypothyroidism. These two are a common practice to evaluate the health of the new population and to keep a tab on the diseases afflicting children.

Forensic Testing

Carried out more for legal and investigational purposes, rather than medical discoveries. Used to identify victims and piece together victims in those for legal purposes.

Karyotype Test

This type can reveal “large segments of missing or extra genetic material,” according to data from a course titled Genetics in the Physician Assistant’s Practice. This test can determine if a chromosome has the capability to be passed down, which can negatively impact the receiver.

This is an updated version of an article originally published on Life Science Investing News on April 21, 2016 and was updated by Bryan Mc Govern on April 27, 2017.

Don’t forget to follow @INN_LifeScience for real-time news updates.

Securities Disclosure: I, Bryan Mc Govern, hold no direct investment interest in any company mentioned in this article.

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  • Hello,
    I was reviewing your site and you mention the different types of genetic testing but I see that nutrigenomic testing is not mentioned. We are a nutrigenomic testing company that was launched back in April 2016.

    Here is our website for your review: http://www.GenomixNutrition.com

    I wanted to reach out to you to see if there was some way to be listed on your website.

    Kara Stewart-Mullens
    CEO – Genomix Nutrition, Inc.


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