Diagnostic Precision

A SeraCare blog focused on precision medicine and advanced clinical diagnostics

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Assessing RNA Extraction with FFPE Fusion RNA Reference Materials

Catagory: NGS, reference materials, RNA fusion

Posted by Dan Brudzewsky on Mar 11, 2020 12:00:00 PM
This is a third blog in a series on RNA fusions, this time focusing on how the FFPE Fusion RNA materials are used as RNA extraction controls.
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Evolution of non-invasive prenatal testing (NIPT) testing

Catagory: NGS, NIPT, #Quality, New Reference Material, reference materials, trisomy, Reproductive Health, Non-invasive Prenatal Testing

Posted by Agnes Caruso on Feb 5, 2020 11:45:00 AM
Prenatal screening for aneuploidy has changed dramatically since the 1970s. Non-invasive methods developed in the 1980s and 1990s, combined measurements of maternal serum analytes and ultrasonography. The problem with those methods was not just a high false-negative rate of 12% to 23%, a high positive rate of 5% and a poor sensitivity, ranging from 50% to 95% 1. Uncertain results frequently led to invasive procedures such as amniocentesis or chorionic villi sampling to perform karyotyping on fetal samples. Both of those procedures carry a risk of miscarriage.
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Multi-Lab Study of Fusion RNA Reference Standards for Targeted NGS

Catagory: NGS, reference materials, AACR, NTRK, RNA fusion

Posted by Andrew Anfora, PhD on Jan 28, 2020 11:45:00 AM
Sourcing assay validation samples as positive run controls or workflow controls in targeted NGS RNA fusion assays remains a challenge today. This is further exacerbated with clinical labs looking to provide validated NGS assays for patient stratification in a host of new drugs in clinical trials or newly approved targeting fusion genes, such as NTRK genes (Larotrectinib, Loxo/Bayer) and Entrectinib (Genentech/Roche) for rare cancers in adult and pediatric patients, and RET (Loxo/Lilly) for lung cancer. SeraCare produces several RNA fusion reference materials. This article describes the development and multi-laboratory evaluation of a pan-cancer multiplexed Fusion RNA reference standard for analysis of clinically relevant fusion genes in solid tumors. The evaluation was conducted at 5 different laboratories on different NGS platforms (amplicon- and hybridization capture-based) as well as at different RNA inputs within a platform. Results highlight the utility of this Fusion RNA reference material to support clinical NGS assays as positive controls in solid tumor cancer patient stratification for many of these fusion-based targeted therapies.
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What is Non-Invasive Prenatal Testing (NIPT)?

Catagory: NIPT, #Quality, New Reference Material, reference materials, trisomy, Reproductive Health

Posted by SeraCare Team on Jan 20, 2020 3:00:00 PM
Fetal aneuploidy affects about 9 in 1,000 live births. The definition of aneuploidy is an abnormal number of chromosomes ; with 23 pairs of chromosomes in humans, 46 is the normal number, while aneuploidy individuals will have 45 or 47.  In trisomy, there is one additional chromosome, typically chr21, 18 or 13 (it is not a coincidence that these are the smallest chromosomes in humans).  Historically, the invasive methods amniocentesis and chorionic villus sampling (CVS) were used with risk to the pregnancy, with about a 1% chance of miscarriage due to the procedure. Non-invasive methods based upon ultrasound and serum biomarkers are useful screening tests, but were of limited reliability as they were indirect measures of chromosomal abnormalities1.   Photograph courtesy of Flickr user Can H.
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Building and Implementing Liquid Biopsy Assays with the Industry’s Most Patient-Like Reference Materials

Catagory: NGS, SeraSeq, liquid biopsy, reference materials

Posted by Omo Clement, Ph.D. on Oct 24, 2018 9:00:00 AM
SeraCare’s clinical genomics technologies are developed to address challenges faced across the spectrum of NGS assays. From early development of assays – either IVD assay manufacturers or clinical labs building their own LDTs - there is a scarcity of characterized, complex, difficult variants to ensure the assay can robustly detect all the critical genomic variants in a patient sample. Using our highly characterized, reproducible, and GMP-grade NGS standards, laboratories have a wide range of analytical and clinical validation tools to deeply characterize assay performance such as LOD, linearity, specificity, sensitivity, and reproducibility.   
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Ebola Outbreak 2018: Diagnostics Again are Essential to Minimize Spread and to Control Disease

Catagory: Accuplex, reference materials

Posted by Catherine Huang on Jun 25, 2018 10:00:00 AM
On April 4th, 2018, a new outbreak of Ebola Virus Disease (EVD) occurred in Equateur Province in the Democratic Republic of the Congo. As of June 10th, there have been a total of 55 EVD cases and 28 deaths with a case fatality rate of 50.9%. Although the outbreak remains active, public health authorities have expressed cautious optimism because there have been no new cases in two of the three affected areas (Bikoro and Wangata zones) since May 17th, 2018 and the rate of new cases in the third affected zone (Iboko) has slowed.1
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Developing a Rock-Solid Lung Cancer Assay

Catagory: cancer, NGS, reference materials, Lung Cancer

Posted by Yves Konigshofer on Mar 15, 2018 11:55:00 AM
Next-generation sequencing (NGS) allows deeper insights than ever before into the human genome and a host of diseases and conditions. So it makes sense that there is a worldwide movement to employ NGS in a growing number of applications. But as the saying goes, with great power comes great responsibility.
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CNVs and Tumor Profiling: New CNV Materials for Breast, Lung, and Brain Cancer

Catagory: cancer, NGS, reference materials

Posted by Dana Ruminski Lowe, Ph.D. on Feb 14, 2018 4:00:00 PM
Simply described, copy number variations (CNVs) are DNA segments present at a variable copy number in comparison to a normal genome. It was originally thought that a CNV consisted of a region of greater than 1 kilobases, however advances in technology have allowed for identification of CNVs as small as 50 basepairs1.
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Reliable Interpretation of NGS Data: New Poster Talk Video

Catagory: NGS, SeraSeq, AMP, reference materials

Posted by Cynthia Hendrickson, CEO Directed Genomics on Feb 1, 2018 8:00:00 AM
The ability to rapidly and effectively evaluate the performance of customized next-generation sequencing (NGS) panels is critical to provide high-quality sequencing solutions to customers. New England Biolabs®, together with Directed Genomics®, is developing a new offering, NEBNext Direct® Custom Ready Panels, which will allow researchers to select from a large library of genes for which baits have been developed and optimized, thus enabling rapid deployment of customized target-enrichment panels. Directed Genomics has been collaborating with SeraCare Life Sciences in order to streamline the optimization and characterization of NEBNext Direct target enrichment panels. 
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With so many options, how do you select the best NGS cancer assay?

Catagory: cancer, NGS, reference materials, RNA fusion

Posted by Catherine Huang on Jan 11, 2018 12:10:00 PM
Clinical labs must constantly evolve their test offerings in order to support the most recent advances in clinical care. For next-generation sequencing (NGS) tumor profiling assays, there are often multiple commercially available kits with similar claims for gene content and sensitivity, as well as customized solutions. How can you quickly perform an effective evaluation of available assay systems to make a data-driven choice?
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