MetaSeq

What is MetaSeq?

MetaSeq is a next-generation, cell-free DNA (cfDNA), culture-free metagenomic NGS test designed to detect clinically relevant pathogens directly from blood samples. It enables unbiased, hypothesis-free detection across 1,400+ pathogens in a single assay, covering all major pathogen categories including bacteria, fungi, parasites, and DNA viruses. Powered by NOSCENDO’s DISQVER® platform, MetaSeq integrates a curated reference database with a proprietary bioinformatics algorithm to deliver precise, clinically actionable pathogen identification using microbial cfDNA.
For peripheral blood samples, MetaSeq is CE-IVD validated. In addition to blood, MetaSeq can be performed on other clinical sample types such as cerebrospinal fluid (CSF), synovial fluid, and ascitic fluid; testing on these sample types is currently offered for Research Use Only (RUO) and should be interpreted accordingly.

Key Features of MetaSeq

FeatureDescription
One test, no culture neededDetects 1,400+ pathogens in a single assay.
Confident rule-in / rule-outEnables early exclusion of infectious aetiologies.
Clinically superior sensitivityHigher sensitivity compared to blood culture.
Active infection focuscfDNA reflects real-time infection status.
Short turnaround timeFaster results via a culture-free workflow.
WHO-Recognised Clinical ValidationRecognised in the WHO’s global landscape analysis as the only clinically approved NGS platform for diagnosing invasive fungal diseases, highlighting DISQVER®’s proven clinical performance and leadership in pathogen detection.
Real-Time Infection AssessmentCell-free DNA acts as a more abundant biomarker, enabling precise analysis of microbial load at the time of blood collection.
Detects of Difficult-to-Culture
Pathogens
Reliably identifies pathogens that are difficult or impossible to culture using conventional diagnostic methods.
Unaffected by Prior Antimicrobial
Therapy
Detection is independent of previously initiated anti-infective therapy, supporting accurate pathogen identification even after treatment has begun.

Clinical Applications of MetaSeq

  • Rule in or rule out bloodstream and other infections with confidence.
  • Detect pathogens missed by conventional methods.
  • Minimise unnecessary broad-spectrum antibiotic use and guide therapy changes.
  • Enable faster diagnosis and early targeted therapy.
  • Guide precise therapy, particularly in ICU, NICU, and immunocompromised patients.
  • Reduce complications and hospital stays.
  • Support personalised treatment pathways.

Specifications

  • Platform: Cell-free DNA (cfDNA) metagenomic next-generation sequencing (mNGS).
  • Technology: Culture-free, hypothesis-free detection using microbial cfDNA from blood.
  • Pathogen coverage: Detects 1,400+ pathogens across all major microbial categories.
  • Pathogen classes: Bacteria, Fungi, Parasites, and DNA Viruses.*
  • Analytical platform: Powered by NOSCENDO’s DISQVER® metagenomics with proprietary bioinformatics algorithms.
  • Sensitivity: Clinically superior sensitivity compared to conventional blood culture.
  • Sample Type: Peripheral blood (Streck tube).
  • Sample Volume: 8 mL (minimum 3 mL for paediatric/neonatal samples).
  • Turnaround time: ~5 days.
  • *Note: This test does not detect RNA viruses.:

MetaSeq tests offered by MedGenome

Key Highlights of MedGenome’s MetaSeq

Comprehensive Pathogen Detection

Detects 1,400+ clinically relevant pathogens across all major categories, including bacteria, fungi, parasites and DNA viruses, in a single test, providing broad infectious coverage without multiple assays.

Unbiased & Hypothesis-Free Testing

A culture-free, cfDNA metagenomic NGS test that identifies pathogens directly from blood without prior assumptions, enabling detection even when conventional tests fail.

Fast Actionable Results

Delivers rapid turnaround (~5 days) through a culture-free workflow, supporting earlier diagnosis, timely targeted therapy, and improved patient management in critical settings.

What is MetaSeq?

MetaSeq is an advanced, culture-free test that helps doctors identify the cause of serious infections by detecting tiny fragments of microbial DNA (known as cell-free DNA) circulating in the bloodstream. It enables the detection of bacteria, fungi, parasites, and DNA viruses directly from blood samples, without the need to grow the organism in a laboratory. For blood samples, MetaSeq is CE-IVD validated, supporting its clinical use in the diagnosis of suspected infections.
In addition to blood, MetaSeq can be performed on other clinical sample types such as cerebrospinal fluid (CSF), synovial fluid, and ascitic fluid; however, testing on these sample types is currently offered for Research Use Only (RUO).

How is the MetaSeq Test Done?

StepsDescription
Sample Collection A simple blood sample is collected using specialised tubes. No additional procedures are required.
cfDNA Isolation Cell-free DNA (cfDNA) is isolated from the blood sample to capture microbial DNA circulating in the bloodstream.
Library PreparationThe extracted cfDNA is prepared for sequencing using advanced genomic library preparation methods.
Rapid Next-Generation SequencingHigh-throughput NGS is performed to enable unbiased, culture-free detection of pathogens.
Bioinformatic AnalysisSequencing data is analysed using a proprietary bioinformatics pipeline powered by the DISQVER® platform.
Comprehensive Clinical ReportA detailed report is generated, providing clinically relevant insights to support diagnosis and treatment decisions.
Laboratory specialist analyzing blood samples, supporting maternal blood group assessment through Rhesus D Track

When is the MetaSeq test recommended?

MetaSeq may be recommended when:

  • You have a suspected bloodstream infection or sepsis, including severe sepsis or septic shock.
  • You have a persistent or unexplained fever, including fever of undetermined origin.
  • Routine cultures or standard tests have failed to identify the causative pathogen.
  • You are critically ill or immunocompromised, including patients with infections during immunosuppression.
  • You have a suspected diagnosis of deep-seated or complex infections, such as endocarditis, pneumonia, meningitis, peritonitis, or ascites.
  • You have febrile neutropenia.
  • You have intravascular foreign material (such as catheters or implants) with fever, suspected infection, or unexplained clinical deterioration.
  • You experience clinical deterioration with suspected infection, despite ongoing evaluation or treatment.
  • You develop poor general condition or fever after international travel, where uncommon pathogens may be involved.
  • You belong to a high-risk group where early infection detection is critical to guide timely intervention.

How is MetaSeq different from traditional culture tests?

What kind of infections can MetaSeq detect?

Medical professional verifying clinical details for Rhesus D Track testing

How is the test performed?

  • A blood sample is collected using a specialised tube.
  • No surgery or invasive procedure is required.
  • The sample is analysed using advanced genomic sequencing technology.
  • A comprehensive report is generated for your doctor.

How soon will the results be available?

Advanced medical imaging interface used for clinical evaluation related to Rhesus D Track testing

How can MetaSeq help with treatment decisions?

By identifying the exact cause of infection, MetaSeq helps doctors:

  • Choose more targeted treatment
  • Avoid unnecessary broad-spectrum antibiotics
  • Start appropriate therapy earlier
  • Potentially reduce complications and hospital stay

Is MetaSeq useful for critically ill patients?

Does MetaSeq detect all viruses?

What does a MetaSeq report provide?

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