Overview of Services
Salient services provided for molecular profiling include the complete NGS service, which consists of:
- sample preparation with QA/QC validation,
- running the sample on the NGS instrument,
- bioinformatics pipeline processing, specifically, QA/QC analysis of NGS data, sequencing data alignment, molecular characterization of mutational findings, report generation (annotated Excel file) delivered to the customer.
Examples of NGS approaches
- for DNA include:
- whole-exome
- whole genome
- targeted cancer panels.
- RNA approaches include:
- mRNA,
- total RNA for gene expression,
- isoform expression,
- expressed mutations,
- fusion analysis.
- Methylation approaches currently utilize the Infinium EPIC array. RRBS to be offered soon.
Additional Services Offered
Illumina Bead Array
- MethylationEPIC array for standard or FFPE DNA
- Tecan Freedom EVO for high-throughput array staining
- iScan and Autoloader for high-throughput array scanning
Nucleic Acid extraction
- DNA & RNA from cells, solid tissues, & FFPE
- cfDNA from plasma & urine
NGS Library Preparation
- Whole Genome including low-pass or ultra-low-pass (0.1 – 0.3x)
- Targeted DNA panels
- RNA-seq with Truseq Stranded Total RNA
- RNA-seq with Truseq Stranded mRNA
- RNA-seq with Takara SMARTer Stranded Total RNA
- single-cell RNA-seq with 10X Genomics
QC for Nucleic Acids and NGS Libraries
- Qubit fluorometer
- NanoDrop spectrophotometer
- Agilent Fragment Analyzer capillary elctrophoresis system
- Library functional assessment with QuantStudio5 qPCR system
Droplet Digital PCR (ddPCR)
- BioRad QX200 system
DNA Fragment Size Selection
- Sage Science PippinHT
Technology and Instrumentation
NGS Instrumentation
- Illumina HiSeq 3000
- Illumina NextSeq 500
- Illumina miniSeq
Other Molecular Profiling
- Illumina iScan Microarray System with autoloader
- BioRad ddPCR QX200
- 10x Chromium System
Support Equipment
- Advanced Analytical Fragment Analyzer
- Tecan Freedom Evo Robot
- QuantStudio 5 Real Time PCR System
- Sage Science PippinHT
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