Immunodeficiency disorders weaken the body’s ability to fight infections. Early treatment can prevent serious illnesses and improve overall health.

Next-generation sequencing (NGS) is a powerful tool to identify the genetic causes of immunodeficiency disorders. It is a type of DNA testing that in a timely manner analyzes large amounts of genetic information to find changes or mutations in a person’s DNA.

By examining a person’s DNA, physician and healthcare providers can learn more about their specific condition and how to treat it. We will explore the use of next-generation sequencing (NGS) for genetic screening of primary immunodeficiency, including its benefits, limitations, and provide an example of its successful use.


NGS is a high-throughput DNA sequencing method that allows for the simultaneous analysis of thousands of genetic variants in a single test. It works by fragmenting the DNA sample into small pieces, sequencing the fragments using specialized DNA sequencing machines, and then using bioinformatics software to analyze the data.

There are several advantages to using NGS for genetic screening of immunodeficiency disorders. First, it allows for the simultaneous analysis of multiple genes, making it more efficient than traditional genetic testing methods that typically only analyze one gene at a time. Second, Tesis Biosciences’ immunodeficiency panel has a high degree of accuracy, making it reliable for identifying rare genetic variants that other methods may miss.

The steps involved in the NGS process for genetic screening of immunodeficiency disorders are as follows:

  1. Sample preparation: The first step is to extract DNA from the patient’s blood or saliva sample.
  2. Library preparation: The extracted DNA is prepared for sequencing by fragmenting it into small pieces and attaching specialized tags to the ends of each fragment.
  3. Sequencing and Data Analysis: The prepared DNA is sequenced using a specialized DNA sequencing machine. The sequenced data is then analyzed using bioinformatics software to identify genetic variants that may be associated with immunodeficiency disorders.

Case Study

NGS has been used successfully in several case studies to screen and diagnose for immunodeficiency disorders. Here are one example of a single-center study from 2015 to 2018.

This study enrolled 2392 infants less than three months old with infections or abnormal white blood cell counts. Gene variants were analyzed using NGS, and once a mutation was found in a PID-associated gene, NGS detected the immune functions associated with that mutation. The diagnosis rate of PIDs in the cohort was the primary outcome. The patients received corresponding management and follow-up treatments.

Outcomes among the 2392 patients genetically tested with NGS:

  • Fifty-one infants were diagnosed with PIDs.
  • NGS detected seven PID types
  • The most common (25/51, 49%) were combined immunodeficiencies with associated or syndromic features.
  • Thirty-five patients (68.6%) were cured or had improved outcomes after being diagnosed with PID.
  • The NGS cost in this study was $280 per case.

Limitations and Challenges

Constraints and challenges of NGS for genetic screening of immunodeficiency disorders:

  • Cost: NGS technology is expensive and requires specialized equipment and expertise, which can be a barrier for some individuals and healthcare organizations, especially in resource-limited settings.
  • Availability: Not all hospitals and clinics have the necessary equipment or trained personnel to perform NGS testing, especially in rural or remote areas.
  • Diagnostic Challenges: NGS is most effective at identifying genetic mutations that cause specific disorders. But NGS may not identify all hereditary anomalies, identifying complex, multifactorial diseases, or a combination of environmental causes that cause immunodeficiency diseases.

Strategies to address limitations:

  • Use NGS and other diagnostic tools (e.g., clinical history and physical examination) to improve accuracy.
  • Use NGS in a targeted manner, focusing on specific genetic mutations that cause a particular immunodeficiency disorder to reduce costs and improve accuracy.
  • Increase access to NGS technology to healthcare professionals and partnerships with regional organizations like Tesis Biosciences that has the necessary equipment and professional expertise.

Next-generation sequencing (NGS) is a powerful means for genetically screening immunodeficiency diseases. It allows for rapid and exact identification of the genetic mutations that cause these conditions. One major benefit of NGS is its ability to find various changes in a single test, making it more efficient than traditional methods.

Despite these restraints, NGS is a crucial device for the early analysis and treatment of immunodeficiency disorders. Diagnosis is critical for successfully managing these conditions, and NGS can facilitate this by providing rapid and accurate genetic information. In the future, the use of NGS in this field will likely continue to expand as researchers and clinicians develop new applications and techniques.

Tesis Biosciences offer reliable genetic screening for immunodeficiency disorders using advanced sequencing (NGS) technology. Our compassionate care and quality results can help you make informed treatment decisions. Don’t hesitate to get in touch with us to learn more.