Molecular Diagnostics Software

Our Solution:
NucleoLIS Software


Complete History:
Molecular Diagnostics


Molecular diagnostics is one of the most important scientific fields of this age.

Before the 1980s, the idea that we could diagnose disorders by looking all the way down to a person’s genetic code was the stuff of science fiction. Now, not only can we diagnose disease with the help of molecular diagnostic software, we can also use these tests to prevent illness, manage risks, and much more.
The molecular diagnostics field grows every day, with new discoveries, testing options, and technological advances. For laboratories that conduct molecular diagnostic tests, this means using software that can keep up with advances and demands.

Molecular Diagnostic Software Basics

What is molecular diagnostic software, and how can software users know that they’re getting everything they need from their options? Let’s start by taking a look at some of the most basic molecular diagnostic information, including its definitions, uses, and applications in today’s world.

Molecular Diagnostics: An Overview

Molecular diagnostic testing is a unique field that combines molecular biology with medical testing. Molecular diagnostics experts can make diagnoses and predictions based on DNA, RNA, and other genetic markers. The field is a very recent one, as far as scientific processes go. It’s less than 50 years old. But in the time that humanity has been able to use it, we’ve seen significant leaps forward.

Molecular Diagnostic Software Applications

Molecular diagnostic software acts as the glue that binds laboratory processes together. It unites complex instrumentation and testing. Furthermore, the right software can help turn complex organizational systems into simple, nearly effortless management methods. Molecular diagnostic software should provide plenty of flexibility and support for various workflow types, and it should manage all of the fields and testing types listed below.

Prenatal Testing

By examining DNA and karyotype, molecular testing can catch potential chromosomal differences in a fetus during pregnancy. Prenatal testing serves many purposes, including providing parents with the information that they need to provide for their child’s care in the future. Chromosomal differences such as Down Syndrome can appear alongside certain heart conditions and other worrying possibilities. With these conditions, early detection is vital because it opens up treatment options. That’s why any software that includes prenatal testing should be efficient, thorough, and accurate.


Some of the biggest advances in molecular diagnostics involve the oncology field. Molecular diagnostic software is used to help detect several types of cancers, as well as the genetic markers that could indicate the possibility of future cancer development. Molecular biologists look for cancer by using tests like PCR to find abnormalities in replication.

One of the most significant advancements in molecular diagnostics is the detection of certain types of breast cancer. So far, researchers have identified dozens of genes with links to breast cancer development, and molecular testing experts have figured out how to find and examine those genes.

Viral Diagnostics

Molecular diagnostic software has also become especially important in viral diagnostics. Most notably, labs have begun using PCR testing to detect the SARS-CoV-2 virus that causes COVID-19, the disease that has swept across the globe and changed human existence. Molecular diagnostic testing is also used to detect the COVID-19 antibodies that appear after a person has contracted the disease.


Pharmacogenomics has a big place in molecular diagnostics. Now that we understand how to examine DNA and other small molecular structures, we can do more than simply diagnose diseases. We can also help people take charge of their treatment options.

Pharmacogenomics tells people how their particular genetic makeup will likely respond to certain treatments. With pharmacogenomics tests and the right software to support them, people can avoid the frustrating “trial and error” method of finding the right treatment and instead find success more efficiently.

Risk Management

Molecular diagnostic software can also help with risk management. For instance, we already mentioned that genetic testing can help people uncover their risk for breast cancer. Another example comes from genetic counseling for couples who want to have children. This counseling begins with genetic tests for each potential parent and continues with follow-up appointments that explain any risks of genetic disorders for their future offspring.

Each day, molecular biology gets better at connecting diseases and disorders to their genetic components.
The more we learn about genetics, the more we can help people manage their risks.

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Today’s Molecular Diagnostic Methods

Today’s genetic tests include a wide array of options, and the right molecular diagnostic software should support all of them.


Polymerase Chain Reaction (PCR) is used for many genetic and diagnostic tests. It was used in the Human Genome Project, and today, it’s often used to diagnose diseases that are caused by viruses and bacteria. HIV can be detected through PCR, as can the SARS-CoV-2 virus. PCR can also test for genetic disorders and abnormalities. It’s one of the most commonly-used tests in molecular diagnostics, and it’s invaluable to laboratories that use molecular diagnostic software.

DNA Sequencing

DNA sequencing is the process of studying individual DNA molecules. Scientists use sequencing tests to get a closer look at a person’s genetic makeup. Researchers can use this information to determine potential gene therapy options. DNA sequencing is also used to study viruses, assess genetic disease risks, and more.


As explains, “Fluorescence in situ hybridization (FISH) is a test that ‘maps’ the genetic material in a person’s cells.” These genetic maps provide a clear picture of a person’s genetic profile, and they can also show the genes of cancerous genetic materials such as tumors. FISH has proven useful for identifying and understanding many genetic mutations and abnormalities.

Commercially Available Testing

Molecular diagnostic software has always handled doctor-ordered test panels. More recently, point-of-care testing allows faster results. Another innovation comes from commercially-available molecular genetics tests.

These days, people are increasingly interested in unlocking the secrets hidden in their DNA. Some of the most popular commercial tests help people determine their genetic ancestry, but others provide even more options. People can use these tests to explore their genetic differences, including things like recessive genes and genes that are linked to specific diseases. The demand for these tests is growing, and so is the number of testing options that these kits offer.


Much like FISH testing, karyotyping is a highly visual form of genetic testing, which means that its corresponding molecular genetic software will have to include special considerations. In the simplest terms, karyotyping basically photographs chromosomes so that testers can pinpoint abnormalities such as Turner Syndrome and Down Syndrome.

Other Testing Methods

The testing methods above are just a handful of the types of tests available in molecular diagnostics. Other testing methods include:

  • Microarray testing
  • Laboratory developed testing
  • STD panels
  • Bioterrorism/agent identification
  • Bacterial/fungal identification
  • Clinical laboratory testing

Molecular genetic testing has exploded over the past several years. Today’s molecular genetics laboratories are capable of handling all kinds of tests.


Human immunology is complex and challenging to map. Many factors can influence a person’s immune system. While some may have weak immune systems, others — like those with autoimmune disorders — can have such strong immune systems that those systems attack healthy cells. Immunology studies these autoimmunities and immunodeficiencies.
For those who use molecular diagnostic software, immunology testing can be used to diagnose certain cancers and determine the best treatment options.

The Complexities of Molecular Diagnostics

Molecular diagnostics has existed for more than 2,000 years, if you include theoretical studies in that number. Even the ancient Greeks came up with theories about what makes humans different from one another. The molecular genetics field is without a doubt one of the most complex disciplines in science today. It’s crucial for diagnostic labs to have excellent molecular diagnostic software to keep up with these complexities.

What Makes Molecular Diagnostics So Important Today?

Again, molecular diagnostics didn’t see major, practical changes until the 1980s. Until that point, scientists had to make do with generalizations and theories. Thanks to technological advances and the Human Genome Project, the molecular diagnostics field looks very different today than it did just 40 years ago. Today, molecular diagnostics has gained a lot of respect and importance. Below are just some of the reasons why the world has started to pay attention to the field.

A Specific Approach

Those molecular generalizations are now a thing of the past. We can understand some of the deepest and most specific complexities of humanity. That knowledge has transferred to our understanding of medicine. Take pharmacogenomics, for example. We mentioned above that pharmacogenomics can take the frustration out of finding effective treatments. That’s because of its specificity. The more advances we see, the more specific the field becomes, and that may result in people living longer, healthier lives.

A Growing Field

Molecular diagnostics is growing, both in scope and in importance. As we’ll explore later, molecular diagnostic software and other molecular diagnostic tools must keep up with new demands and advances.
So, how much is the field growing? Between 2000 and 2005, the industry grew up to 20%, largely thanks to software and similar technologies. The market size has grown steadily since then and is expected to continue growing.

Lucrative and Necessary

The molecular diagnostic market isn’t just getting bigger, though. It’s also getting more lucrative. According to Markets and Markets, the industry was worth 7.71 billion dollars. By 2023, it’s expected to reach $11.54 billion.

Several factors have contributed to this growth, and unfortunately, not all of them are good. A lot of this market growth has to do with the high number of infectious diseases in the world. Hepatitis and HIV, for example, have driven market growth. So has the COVID-19 pandemic.

However, these factors are the very things that make the molecular diagnostics market so necessary. Humanity relies on molecular diagnostics to identify and help treat the diseases and disorders that would have otherwise baffled us.

On the other hand, several positive factors have driven this growth, too. Markets and Markets cites personalized medicine, better awareness, and technological advances.

Today’s Molecular Genetics Advances

We’ve hinted at some of the latest advances in molecular genetics. Now, let’s take a closer look at some of these
specific advances and discoveries. Below are just a few of the most recent changes in the world of molecular genetics.

CRISPR and Gene Therapy

If you work in molecular genetics, you’ve heard of CRISPR gene editing. In fact, CRISPR is such big news that many people outside of the scientific community have heard of it. CRISPR is being used to correct and heal genetic disorders. The process effectively cuts and then “fixes” genes, acting as a type of editor for the body. Recently, researchers have started studying CRISPR for its healing potential in cancer and Alzheimer’s disease.
For laboratories that handle molecular genetics, it’s important to keep an eye on CRISPR and its possibilities. Even laboratories that only handle diagnostics are paying attention.

Mental Health Genetics and Suicidality

Genetics play a critical component in mental health, too, and that includes genes linked to suicide risk. Researchers have recently unlocked several genes linked to suicidality. “In a new study, researchers at the Huntsman Mental Health Institute discovered 22 genes that could have a role in suicide deaths,” explained Heather Simonsen of “It establishes that suicide is partially heritable independent of a shared environment.”
This information could help scientists better predict people’s risk of suicide and help people get the treatment that they need. The article goes on to explain that the next step is in molecular genetics. Researchers want to establish links and patterns to develop better drug therapies for mental health disorders.

COVID-19 Risk Assessment

Since the COVID-19 pandemic began, researchers have searched for answers in people’s genetic codes. Why, for example, do some people only experience mild symptoms? Why do some people need hospitalization while others can recover at home? Why do some people experience no symptoms at all?
Certain gene variants may provide some answers to those questions. The gene marker that determines blood type, for instance, has a correlation to COVID-19 severity. This information can help molecular diagnostics researchers as we learn more about the virus and how to treat it. In the future, genetics may help people understand their own risks, and they may also help doctors prescribe the best treatments for their COVID-19 patients.

The advances listed above are just some of the exciting developments in the world of molecular genetics. For molecular diagnostics labs, these advances could have a big impact on their daily processes.

What Does This Mean for Your Laboratory?

What does all of this mean for your laboratory? It means that your molecular genetics software is more important now than ever. People rely on laboratories like yours, and those laboratories rely on their software to keep their labs running efficiently.

Keeping Up with Advances and Demands

For one thing, your molecular genetics software must keep up with advances and demands in the field. The beautiful thing about science is that it doesn’t stagnate. As long as people are willing to explore, there will always be more to learn. So, can your software keep up when science discovers new medical advancements, new details, and even new tests?
You need software that’s built for the here and now, but you also need software with smooth, seamless updates. This way, you can rest assured that no matter what happens in the field, your software can keep up with new advances and continue providing your clients with answers. You can also have confidence that these upgrades won’t interrupt your laboratory’s workflow.

Complex Reporting and Workflows

Speaking of your laboratory’s workflow, your software should also support your processes. Molecular diagnostics laboratories have especially unique workflows. Of course, your laboratory software should support all molecular diagnostics tests, including PCR, FISH, and karyotyping. In addition to these basics, your laboratory software should also support whatever unique workflows you use in your lab. Each laboratory has its own rhythm and speed, and you’ll want a software that can match yours so that you can keep running your laboratory effectively.

NucleoLIS Efinity Software

What molecular diagnostics software can handle all of the above?
NucleoLIS Efinity software from Psychē Systems can. Let’s take a closer look at what sets this software apart from the rest.

How NucleoLIS Manages Molecular Diagnostic Complexities

NucleoLIS is especially adept at handling molecular diagnostic complexities. The Psychē Systems team has designed this software with full knowledge of how complicated this field can be. We also keep a close eye on the latest updates and advances.

Laboratory information system

All Molecular Disciplines with a Single Software

First, NucleoLIS supports all molecular diagnostic disciplines in a single software. You can use your NucleoLIS software for FISH, DNA sequencing, karyotyping, and immunology testing. The software supports all of these workflows from start to finish.

Automated Rules-Based Logic

NucleoLIS also applies automated rules-based logic for things like reflexive and confirmatory testing. This automated logic can help your laboratory technicians save time and keep their workflows running as smoothly as possible.

Laboratory information system

Specimen Storage Manager

The specimen storage manager is one of the most time-saving aspects of the NucleoLIS molecular diagnostic software. It’s a straightforward system that keeps track of specimens, telling your lab techs when and where specific specimens are stored. This way, techs can easily find and retrieve specimens instead of spending extra time searching for what they need. For laboratories that need more organization, this particular tool is invaluable.


NucleoLIS is also a highly customizable molecular diagnostics software. For example, this software lets you define your own code-enabled workflows for specific samples and batches. It also has configurable data tables and many other factors that you can use as you wish to run your laboratory as you see fit.
You can’t provide the best services for your clients unless your laboratory runs well. With the right customization, you can ensure that it does.

Meeting Today’s Demands

NucleoLIS is also designed to make sure that your lab can meet today’s most pressing demands. This software meets all of the demands that we discussed above. There’s no reason why your laboratory shouldn’t keep up with the latest advancements and needs. The right molecular diagnostic software will make sure that you always do.

Automated Seamless Updates

All of our software options come with automated seamless updates. We understand the importance of these updates, especially in the molecular diagnostics field, as mentioned. NucleoLIS ensures that you get those updates exactly when you need them. These updates also won’t interrupt your regular workflows, so you won’t have to worry about halting your lab’s productivity.

Complex Information, Simple Reporting

If you run a molecular diagnostics laboratory, then you deal with complex information every day. However, just because you deal with complex processes doesn’t mean that you can’t have simple report formatting. NucleoLIS keeps the reporting process simple, no matter how much information you want to include in your reports. For example, if you want to scan and attach several files to your reports, NucleoLIS will let you do so easily.

Startup-Friendly and Affordable

Finally, NucleoLIS is both affordable and accessible to startup laboratories. A software’s price tag shouldn’t prevent you from getting the best software for your laboratory. We keep our prices competitive so that you don’t have to hesitate to get the quality that you deserve.

Build Your Molecular Diagnostics Software System

How can you get started with our molecular diagnostic software? You can always contact us for more information. The Psychē team would be happy to help you explore your options. We’re also here to answer any questions you may have about our products and their features.

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You can also start customizing your LIS today by using our software building tool. You can pick and choose the features that you need without paying extra for the features that you don’t want.
Your molecular diagnostics laboratory is doing crucial work. The right molecular diagnostics software can take that work to new heights.

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