OptiSeq™ NGS Targeted Sequencing Service

End-to-end NGS solutions and gene panels powered by XNA technology

No more costly and time-consuming deep sequencing! DiaCarta’s OptiSeq™ Next-Generation sequencing platform removes the cost and time barriers by reducing the sequencing depth by a factor of up to 100X and enabling ultra-sensitive detection of genetic mutations. The platform uses the proprietary XNA technology that only hybridizes the wild-type template. That way, only the mutant template is amplified and sequenced. 

 

500 sequencing reads on the OptiSeq™ platform are equivalent to 50,000 reads without using the platform.

CLIA Validated Gene Panel 

OptiSeq™ Pan-Cancer Panel (65 Genes)

DiaCarta offers a sample-to-report OptiSeq™ Targeted Sequencing cancer diagnostic service at its state-of-the-art CLIA certified facility. The liquid biopsy/FFPE sample prep workflow provides clients with fast turnaround time and accurate VAF detection process.

Research-Use-Only Validated Panel

OptiSeq™ Lung Cancer Panel (32 Genes)

Including AKT1, ALK, BRAF, CCND1, CDKN2A, CTNNB1, DDR2, EGFR, EIF1AX, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, GNAS, HRAS, IDH1, IDH2, KIT, KRAS, MAP2K1, MDM2, MET, NRAS, PDGFRA, PI3CA, PTEN, RET, ROS1, STK11, TP53, TSHB

OptiSeq™ Lung Cancer & Colon Cancer Early Detection Panel (6 Genes)

Including CTNNB1, KRAS, NRAS, APC, EGFR and BRAF.

OptiSeq™ BRCA1 and BRCA2 Panel (2 Genes)

Including BRCA1 and BRCA2.

Advantages of OptiSeq™ NGS Targeted Sequencing Service

Ultra-Sensitive

Ability to detect below 0.1% mutations
 

Sample Format

Suitable for FFPE tissue (e.g. solid tumor) and blood samples (e.g. ctDNA)

Fast Result

Streamlined workflow with 7-10 days turnaround time from sample to report

Accurate

Fewer errors by enriching mutant allele reads

Reproducible

Robust XNA technology minimizes variability

Cost-Effective

Achieved by reducing 100x read depth

OptiSeq™ NGS Targeted Sequencing Service Supporting Data

Melting Profiles of PCR Amplicon

OptiSeq™ applies XNA technology to predominantly enrich the KRAS codon 12 mutant allele from a lung tumor sample, resulting in a pure mutant PCR amplicon as indicated by a single peak in the high resolution melting profile (on the left). PCR for conventional NGS without XNA technology, on the other hand, obscures the mutant allelic signal in the profile (on the right).

Ultra-Sensitive Detection of BRAF V600 Mutation

Ultra-sensitive detection of rare and actionable mutations is achieved without deep sequencing. OptiSeq™ rapidly, precisely and cost-effectively detects the BRAF V600E mutation from ctDNA in whole blood.  The detection levels of 5%, 1% and 0.1% mutant DNA are shown.

OptiSeq™: Background Noise Reduction

Data coming from circulating tumor DNA mutation sites present high background noise from wild-type DNA (filled and open circle below the dotted line) separated from mutant DNA signal (inverted triangle above dotted line). For mutant DNA, only variant DNA template sequences are sequenced/analyzed. 500 reads OptiSeq™ = 50,000 reads without XNA technology. For wild-type DNA, wild-type alleles are not analyzed, so it reduces time but still gives high-quality read depth.

Streamlined Workflow for OptiSeq™ NGS Targeted Sequencing Service

Step 1: Sample prep & QC

Step 2: Target enrichment

Step 3: Library Preparation & QC & Template

Step 4: Sequencing Run

Step 5: Data Analysis

Step 6: Reporting

OptiSeq™ NGS Targeted Sequencing Service Specifications

Sample Types

FFPE, fresh tissues and liquid biopsy

Target Capture

Hybrid capture protocol

Turnaround Time

10 days from sample preparation to reporting

Target Enrichment

OptiSeq™ target amplification

DNA Library

~80 bp insert DNA library

NGS Platform

MiSeq or GeneReader

Need Help?

Call us: +1 (800) 878-6662

Email us: information@diacarta.com

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