Rare but Not Alone – Raising Awareness for Rare Diseases

Join us on Rare Disease Day to honor patients, caregivers, doctors, and scientists.

On February 29—a day that only occurs once every four years—people around the world will celebrate Rare Disease Day. It’s a special opportunity to think about those who are affected by rare diseases, the researchers and physicians who work to help them, and what the rest of us can do to make a difference.

Around the world, more than 300 million people are estimated to have a rare disease—that’s nearly equivalent to the entire U.S. population. While there are over 6,000 identified rare diseases and each disease may only affect a few people, every patient living with these conditions shares several common challenges: a lack of funding for research to address their disease, too few people affected to have a robust patient advocacy group, and little familiarity with their symptoms and prognosis among the general public, and even among physicians.

The goal of the Rare Disease Day campaign is to raise awareness about these conditions so that access to diagnostics, treatment, and support options becomes more readily available. The diseases these patients are affected by may be rare, but adequate healthcare is a universal need.

This year marks the 13th annual Rare Disease Day, which is celebrated on the last day of February—whether it’s a leap year or not. People in more than 100 countries are hosting events to raise awareness for specific rare diseases, or for rare diseases in general. If you’re interested in participating, check out planned events in the U.S. and around the world. They include meetings, fundraising walks, sports events, competitions, and more. You can also pin on a blue denim ribbon to show your support for the rare disease community!

Here at Luminex, we are longtime supporters of this cause and we advocate for the patients and caregivers who have to navigate these challenging diagnoses. Rare diseases are especially important to us because most have genetic causes, which means that our technology can play a valuable role in helping affected families get answers about their condition. Scientists use our multiplex xMAP® Technology for rapid development of new assays to diagnose both existing and novel rare diseases.

As an official supporter of Rare Disease Day, we ask that you join the Luminex family and so many other advocates around the world by helping raise awareness for everyone affected by rare disease. Get out there and #ShowYourRare!

Learn More About Rare Disease Day

METHODS Special Issue: Clinical and Analytical Performance Data for NxTAG® RPP

Highly scalable, multiplex molecular assay is comparable to xTAG® RVP performance

If you’ve ever used an assay based on xTAG® Technology, you may wonder how the newer NxTAG® Chemistry stacks up. A new publication in Methods uses clinical and analytical data from respiratory pathogen panels to demonstrate how both performance and workflow have improved with NxTAG Technology.

The publication, “Multiplexed detection and identification of respiratory pathogens using the NxTAG® Respiratory Pathogen Panel,” was written by Luminex researchers and collaborators at several clinical labs. In addition to performance data, the paper also includes a detailed assay protocol for using the NxTAG® Respiratory Pathogen Panel (RPP).

NxTAG RPP is the latest in a series of multiplex molecular assays developed for the detection of respiratory tract infections. The xTAG® Respiratory Viral Panel (RVP)—which detected as many as 19 common respiratory viruses and subtypes—was “the first multiplexed molecular assay for respiratory pathogens cleared for in vitro diagnostic use,” as the authors note. A subsequent test, the xTAG RVP FAST, was also cleared for in vitro diagnostic use. At the end of 2015, NxTAG RPP was launched based on “the newest generation of universal tag sorting chemistry from Luminex,” the scientists write. “NxTAG RPP incorporates multiplex RT-PCR, with the universal tag system in the form of lyophilized reagents, to provide a closed system for amplification and detection of 20–21 respiratory viral and bacterial targets.” After extraction, all steps occur in a single tube for a streamlined workflow that requires minimal hands-on time.

Results of the Study

Results included in this study came from four clinical sites; more than 2,000 nasopharyngeal swab specimens were collected from children and adults. Over 95% of samples “generated valid NxTAG RPP results for all analytes on the first attempt,” the authors report. “All available residual specimens were re-run with NxTAG RPP, and generated valid results upon re-test.”

Detailed analyses of the assay’s performance demonstrate its reliability. “As presented here, the clinical performance is comparable to that of the original xTAG RVP assay, with sensitivities of >92.9% and specificities of ≥96.3% for most pathogens,” the authors write. Clinical specificity “ranged from 96.3% to 99.9% for the viruses and 99.9% to 100% for the bacterial pathogens.” That means NxTAG RPP has comparable clinical performance to the xTAG RVP assay, and its analytical performance is as good as or better than the xTAG RVP and xTAG RVP FAST assays.

The scientists note that “a particular strength of a multiplex panel, such as NxTAG RPP, is the ability to detect coinfections.” In the study reported, coinfections were identified in almost 18% of samples. “While many of the causative organisms are treated similarly, the ability to accurately detect the organisms present and the most likely pathogen is very important when confronted with several organisms in a sample which are of varying risk to the patient,” they report.

Related Content

METHODS Special Issue: Clinical and Analytical Performance Data for NxTAG RPP

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