4 Types of Genomic Laboratory Services to Get

Updated on March 18, 2022

The human genome contains all the genetic information needed to build and maintain an organism. Genomic sequencing is the process of determining the order of nucleotides in a DNA molecule. It is a type of genetic test that looks at your DNA to help identify changes or mutations that may be associated with a particular disease or condition.

Over the years, there has been an increase in demand for genomic laboratory services. As technology evolves, so will the types of services available to patients and healthcare providers. 

Here are four genomic services you can expect to see in 2022.

1) NIPT (Non-Invasive Prenatal Testing)

NIPT is a medical prenatal screening test that can determine the risk of specific chromosomal abnormalities in a baby, such as Down syndrome. NIPT is currently being conducted globally, with more than ten million tests having been performed in 2018.

This test is performed by extracting DNA from the mother’s blood sample and analyzing it for specific genetic markers. It is a non-invasive test, meaning that it does not require the use of needles or other invasive procedures.

NIPT has become increasingly popular due to its high accuracy and low risk of false-positive results.

2) Infectious Disease Testing

Infectious disease testing is used to detect the presence of a pathogen, such as a virus, bacteria, or fungi. This testing can be performed on various samples, including blood, tissue, and stool. 

Infectious disease testing is essential for diagnosing and treating infections. It can also assess the risk of exposure to a pathogen.

In 2022, expect to see advances in infectious disease testing that will allow for rapid detection of pathogens. It will help to improve patient care and reduce the spread of infection.

For example, Covid-19 testing is a type of infectious disease testing that is currently being used to assess the risk of exposure to the SARS-CoV-19 virus. 

Covid-19 testing is performed by taking a sample from the nose or throat and analyzing it for the presence of the virus. 

3) Quantification of Tumor Mutational Burden (TMB)

TMB is the number of mutations in a tumor. The higher the TMB, the greater the chance of a drug-resistant tumor. 

Quantification of TMB is an essential tool for assessing the risk of resistance to cancer therapies. It can also help to guide treatment decisions. 

It involves DNA sequencing of the tumor to identify and count the number of mutations. This testing will help to improve patient outcomes by allowing for tailored treatment plans.

TMB quantification will allow for rapid and accurate assessment of tumor mutational burden. It will help improve patient care and reduce the incidence of drug-resistant tumors.

4) PCR (Polymerase Chain Reaction)

PCR is a laboratory technique to amplify DNA. PCR can be used to detect a specific gene’s presence or generate large quantities of a particular gene. 

In this process, DNA is copied using enzymes. The DNA is then amplified or duplicated. PCR is a tool that can be used for various applications, including diagnostics, research, and forensics. 

There will be advances in PCR that will allow for more accurate and efficient detection of genes. PCR will help improve patient care by providing more accurate diagnoses of diseases.

It will also help improve drug development efficiency by allowing for rapid screening of large numbers of genes. PCR is already being used in various settings, including cancer diagnostics and infectious disease testing. 


Genomic services are becoming more and more popular as technology advances. These are just a few of the types of services you can expect to see shortly. Ensure to talk to a doctor or genetic counselor to determine if genomic laboratory services are right for you.

The Editorial Team at Healthcare Business Today is made up of skilled healthcare writers and experts, led by our managing editor, Daniel Casciato, who has over 25 years of experience in healthcare writing. Since 1998, we have produced compelling and informative content for numerous publications, establishing ourselves as a trusted resource for health and wellness information. We offer readers access to fresh health, medicine, science, and technology developments and the latest in patient news, emphasizing how these developments affect our lives.