AI Reasoning Model Helps Identify Leads for Rare Disease Diagnoses
A study reports that an OpenAI reasoning model improved rare disease diagnostic yield by 4.8% in previously unsolved cases, offering new leads after specialist analysis.
Category: Molecular Diagnostics
Molecular Diagnostics
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Molecular Diagnostics
Latest
Bio-Rad Launches New Line of Thermal Cyclers for PCR Applications
The PTC Harmony 96 and PTC Harmony Deepwell systems are designed to provide high-performance PCR for academic and biopharma laboratories.
Molecular Diagnostics
Latest
Multi-Cancer Blood Test Reduces Stage IV Diagnoses in Large Clinical Trial
Results from the NHS-Galleri study show a 26% reduction in metastatic cancer diagnoses by the third round of screening.
Labcorp Collaborates on Trial to Expand Colorectal Cancer Genetic Testing
The multicenter study will evaluate proactive outreach to at-risk relatives and the impact of multigene panel testing on patient care.
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Volta Labs Launches Automated Library Prep for Oxford Nanopore Sequencing Kits
The Callisto Sample Prep System application is optimized for the PromethION platform to support whole genome sequencing workflows.
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US Settles Genetic Testing Fraud Case Against Laboratory Owner
The settlement follows a criminal conviction and addresses more than $174 million in fraudulent Medicare claims involving multiple laboratories.
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ClearNote Health Raises $52 Million for Early Cancer Detection Tests
The funding will support commercial expansion of the company’s blood-based diagnostic tests and the appointment of a new president and chief operating officer.
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ctDNA Blood Test May Help Guide Treatment Selection for Spreading Cancer
Research presented at ESTRO 2026 suggests circulating tumor DNA can identify which patients will benefit from combined radiation and drug therapy.
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Andes Virus Shifts Hantavirus Conversation for US Labs
Emerging Andes virus cases—capable of person-to-person transmission—are prompting US clinical labs to reassess hantavirus protocols and consider travel and epidemiologic exposures beyond rodent contact.
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Co-Diagnostics Develops Strategy for Ebola Bundibugyo Virus Assay
Co-Diagnostics has completed its assay development strategy for Bundibugyo virus, following the WHO’s emergency declaration and CDC’s updated traveler screening measures amid ongoing Ebola outbreaks in the DRC and Uganda.
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FDA Approves Companion Diagnostic to Identify NSCLC Patients Eligible for Tepmetko
The tissue-based test identifies patients with MET exon 14 skipping alterations eligible for treatment with tepotinib.
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FDA Approves Guardant Health’s New Blood-Based Cancer Test for Advanced Tumors
The FDA has approved Guardant360 Liquid CDx, a blood-based test that integrates genomic and epigenomic profiling for advanced cancer, offering a broader genomic footprint and faster results.
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TGen Launches 72-Hour Whole Genome Sequencing Test for Multiple Myeloma
TGen has launched JAYseq, a clinical whole genome sequencing test for multiple myeloma that delivers results in 72 hours, enabling rapid identification of genetic changes and immunotherapy targets, according to the institute.
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Liquid Biopsy Predicts Immunotherapy Response in Breast Cancer, Study Shows
Researchers at Vanderbilt-Ingram Cancer Center report that RNA sequencing of blood samples can predict immunotherapy response in high-risk breast cancer patients.
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FDA Clears Customizable Gastrointestinal Pathogen Assay
Diasorin has received FDA 510(k) clearance for its customizable LIAISON PLEX Gastrointestinal Flex Assay, allowing labs to select from 24 targets to tailor testing based on patient needs and operational priorities.
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Blood Test Outperforms Ultrasound in Early Liver Cancer Detection, Study Finds
A multicenter clinical trial found the HelioLiver blood test detected early-stage liver cancer with 71.9% sensitivity, outperforming ultrasound’s 36.8%.
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Genotyping Assay That Identifies Genetic Risk for Chemotherapy Side Effects Launches
Yourgene Health has launched the Yourgene Insight DPYD assay, expanding detection to 19 variants for DPD deficiency screening in cancer patients receiving 5-fluorouracil, with same-day results and initial Research Use Only availability.
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Researchers Develop Test to Detect Biomarkers for Specific Type of Dementia
Researchers at Mass General Brigham have developed a digital seed amplification assay that detects TDP-43 protein seeds in cerebrospinal fluid, enabling identification of FTLD-TDP, a specific frontotemporal lobar degeneration subtype.
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