GeneDx Plans to Add Long-Read Whole Genome Sequencing for Rare Disease Testing
The phenotype-driven testing approach aims to detect structural variants and repeat expansions, with an early access program launching by year-end.
Category: Molecular Diagnostics
Molecular Diagnostics
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Molecular Diagnostics
Latest
Genetic Testing Reveals Gaps in Sickle Cell and Thalassemia Carrier Documentation
A Mayo Clinic study of nearly 50,000 adults found many carriers of sickle cell and beta-thalassemia traits were not identified in electronic health records, highlighting gaps in current documentation practices.
Molecular Diagnostics
Latest
Abbott Launches Whole-Genome Sequencing MRD Test Tracking Up to 5,000 Variants
Abbott has launched a next-generation Oncodetect MRD test that uses whole-genome sequencing to track up to 5,000 patient-specific cancer variants, offering a 30-fold increase in detection sensitivity, according to the company.
Biodesix Advances Tumor-Informed and Tumor-Naïve MRD Assays
Biodesix, in collaboration with Bio-Rad and Thermo Fisher Scientific, is advancing decentralized tumor-informed and tumor-naïve MRD assays designed for clinical labs, with validation underway at Memorial Sloan Kettering Cancer Center.
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Hologic and Inpeco Partner to Connect Panther Systems with FlexLab X Automation in Europe
The partnership will allow clinical laboratories to integrate multiple Panther Systems into automated workflows designed to increase testing capacity and improve sample tracking.
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Gene by Gene Partners with Children’s Mercy to Sequence Nearly 100,000 Genomes for Pediatric Rare Disease Study
Gene by Gene will provide whole-genome sequencing for Children’s Mercy’s Genomic Answers for Kids program, supporting the analysis of nearly 100,000 genomes from 30,000 families affected by pediatric rare diseases.
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Guardant Health to Highlight Advances in Liquid Biopsy for Cancer Monitoring at ESMO 2026
Guardant Health will present 25 abstracts at ESMO 2026, highlighting new data on ctDNA liquid biopsy for cancer monitoring, including MRD surveillance and therapy resistance in lung, colorectal, and gastric cancers.New research examines how circulating tumor DNA testing could help detect cancer recurrence, track treatment response, and identify resistance across multiple cancer types.
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WHO Grants Emergency Use Listing for Rapid Test Detecting Ebola and 15 Other Pathogens
The molecular test can identify multiple causes of fever from a single blood sample in about an hour, helping healthcare workers diagnose infections and respond to outbreaks more quickly.
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Ultima Genomics Sequencing Platform Selected for 80,000-Sample UK Biobank Study
The project will analyze immune cells from blood samples to help researchers understand how differences in the immune system influence disease risk, progression, and treatment response.
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Nabsys Launches Tool to Analyze Genetic Repeat Expansions Linked to Inherited Disorders
New software allows researchers to examine repeat expansions associated with up to 23 disease-related genetic regions in a single run.
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Delve Bio Launches Blood Test That Can Detect More Than 68,000 Pathogens
Delve Bio has launched Delve Detect Plasma, a blood-based mNGS assay capable of detecting over 68,000 pathogens from a single blood draw, with next-day results.
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Mayo Clinic Laboratories Invests in Pathology Asia to Expand Regional Genomic Testing
Mayo Clinic Laboratories and Pathology Asia Holdings have announced a strategic investment to expand regional access to molecular and genomic diagnostics in Southeast Asia, Australia, and New Zealand.
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Researchers Develop Rapid Test for 15 Types of Mycobacteria
UNC and Tulane researchers have developed a CRISPR-based microfluidic assay that identifies 15 nontuberculous mycobacteria species directly from clinical specimens in 3.5 hours, with over 97% sensitivity, according to a recent study.
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Study Shows Skin Biopsies Can Help Diagnose Mitochondrial Disease
A multicenter study led by Children’s Hospital Colorado finds that skin biopsy fibroblast assays can help diagnose primary mitochondrial diseases, potentially reducing the need for invasive muscle and liver biopsies.
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Ambry Genetics Launches Whole Genome Sequencing Test Solution for Rare Diseases
The new testing solution integrates ongoing data reanalysis to re-evaluate variants as clinical gene-disease knowledge expands.
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The Next Era of Diagnostic Stewardship
As molecular diagnostics expand what laboratories can detect, laboratories are placing greater emphasis on matching the breadth of testing to the patient and how the results will be used.
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Federal Directive Spurs R&D Focus on Rapid Diagnostics for Vector-Borne Diseases
A new federal directive tasks HHS with launching rapid diagnostic R&D for vector-borne diseases, emphasizing decentralized molecular testing as part of a broader strategy to improve local pathogen surveillance.
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10x Genomics, Fred Hutch Launch Cancer Diagnostics Research Collaboration
10x Genomics and Fred Hutchinson Cancer Center have launched a multi-project collaboration to study single cell and spatial profiling for cancer diagnostics, including biomarkers in bladder cancer and residual disease detection in AML.
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