In‑house targeted enrichment NGS panel exclusively for liquid biopsy (cfDNA). It analyzes 43 genes with ESCAT I and II clinical evidence. Includes library preparation through an optimized workflow (DNA‑only) for plasma samples. Detects SNVs, Indels, CNVs, fusions and 36 microsatellite instability (MSI) markers.
Detailed Description
Principle of operation
End‑to‑end solution based on hybridisation and capture enrichment chemistry for the analysis of 43 genes. The assay consolidates processing into a single workflow exclusively for cell‑free DNA (cfDNA). It stands out for requiring highly competitive minimum inputs, starting from 10 ng (with 30 ng recommended for high‑quality data).
The assay allows analysis of SNVs, Indels, copy number variations (CNVs), fusions and 36 microsatellite instability (MSI) markers. In addition, it includes critical alterations such as METex14 skipping, EGFR vIII variant and large Indels in BRCA1/2.
Analytical Sensitivity:
• cfDNA samples (Liquid Biopsy): Detects variants with allelic frequencies (VAF) down to 0.5% for SNVs, Indels and fusions.
Library preparation integrates UMI adapters and UDI primers with duplex consensus reading to maximise data reliability, correcting errors and preventing index hopping. After an overnight 16‑hour hybridisation, the system delivers sequencing‑ready libraries for compatible platforms in just 2 days, allowing multiplexing of up to 4 samples per capture.
The analysis is comprehensively completed through Hedera Prime (CE‑IVDR), a secondary and tertiary analysis software that automates quality control and variant interpretation, presenting results through specific interfaces optimised for each type of genomic alteration.
Clinical applications
This tool has been designed for advanced molecular profiling of solid tumours through exclusive liquid biopsy analysis (PSO). The assay has validated the evaluation of biomarkers with ESCAT I and II evidence levels (prioritised by ESMO guidelines) for multiple clinical indications (non‑small cell lung cancer [NSCLC], colorectal, cholangiocarcinoma, gastric, thyroid, breast, prostate, pancreatic, hepatocellular, ovarian, endometrial, urothelial and soft tissue sarcomas).
Benefits
Consolidated DNA‑only workflow exclusively for liquid biopsy (cfDNA) sample processing with PSO marking.Comprehensive genomic coverage of 43 genes for the evaluation of SNVs, Indels, CNVs, fusions and 36 MSI markers in a single assay.Incorporation of UMI technology and UDI primers for error correction and index hopping prevention.Performance optimisation with minimum sample inputs from 10 ng of cfDNA.Validated compatibility for sequencing runs on Illumina and Element Biosciences AVITI platforms.Integration of secondary and tertiary bioinformatic analysis through Hedera Prime software with CE‑IVDR marking.
Intended user / audience
Laboratories and research groups dedicated to the study, diagnosis and monitoring of solid tumours, regardless of whether the starting material is Plasma.
Key Features
Genomic coverage of 43 genes for performance studies from liquid biopsy (cfDNA) with PSO marking.
Detection of single nucleotide variants (SNVs), insertions/deletions (Indels), copy number variations (CNVs), fusions and 36 microsatellite instability (MSI) markers, including complex variants such as METex14 skipping, EGFR vIII variant and large Indels in BRCA1/2.
Design focused on solid tumours, integrating biomarkers with ESCAT I and II clinical evidence levels (prioritised by ESMO guidelines) for multiple indications.
Design based on hybrid capture enrichment, integrating UMI adapters and duplex consensus UDI primers for read error correction.
Optimised workflow that allows processing up to 4 samples per capture (24 reactions per kit) with a recommended input of 30 ng of cfDNA.
Processing capability for sequencing runs on Illumina (NextSeq, NovaSeq) and Element Biosciences AVITI systems.
Automated analysis through the Hedera Prime platform, CE‑IVDR marked software that centralises secondary quality control and tertiary variant interpretation.
Presentation Details
Product identification
Commercial name: Hedera Profiling 3 ctDNA Test Panel.Product type: Full Solution.Product family: Assay Enrichment Kit + Hedera Prime Analytics.Product ID: T24-4LP324IProduct version: 2.0.Sample type: cfDNA (liquid biopsy).
Kit contents
Library preparation, Indexing, Purification and isolation.
Required materials (Not included)
Quantification and Quality Control (QC): Fluorometric quantification kits and fragment size assessment kits.Sequencing: Reagents for sequencing runs on Illumina platforms and Illumina PhiX v3 control.
