Bridging a deep understanding of molecular profiles with clinical information is critical to developing innovative precision medicine tools in oncology. SpecimenSeq makes this challenge easier for targeted oncology and liquid biopsy developers by delivering access to ethically collected biospecimen sets that are comprehensively annotated by genomic and clinical characteristics.
Overview:
Conduct smarter oncology R&D faster with SpecimenSeq™
Deliverables & Characterization:
Matched Biospecimen Sets, same donor across different sample formats
| Biospecimen Format | Quantity | Characterization Reports |
|---|---|---|
| FFPE | 1 |
|
| Double Spun Plasma | 4 mL |
|
| Buffy Coat (optional) | ~0.3 mL |
|
NGS Characterization
| DNA Gene Content (64 genes) | |||||||
|---|---|---|---|---|---|---|---|
| ABL1 | CDH1 | ER | FLT3 | IDH2 | MLH1 | PDGFRA | SMAD4 |
| AKT1 | CDKN2A | ERBB2 | FOXL2 | JAK2 | MPL | PIK3CA | SMARCB1 |
| ALK | CSF1R | ERBB4 | GNA11 | JAK3 | MSH2 | PMS2 | SMO |
| APC | CTLA4 | EZH2 | GNAQ | KDR | MSH6 | PR | SRC |
| ATM | CTNNB1 | FBXW7 | GNAS | KIT | MUM1 | PTEN | STK11 |
| BCL6 | DDR2 | FGFR1 | HNF1A | KRAS | NOTCH1 | PTPN11 | TP53 |
| BRAF | DNMT3A | FGFR2 | HRAS | MAP2K1 | NPM1 | RB1 | TSC1 |
| CD10 | EGFR | FGFR3 | IDH1 | MET | NRAS | RET | VHL |
| RNA Gene Fusion Content (6 primary genes) | ||
|---|---|---|
| EML4-ALK | MPRIP-NTRK1 | NCOA4-RET |
| GCC2-ALK | SQSTM1-NTRK1 | TRIM33-RET |
| HIP1-ALK | TPR-NTRK1 | CD74-ROS1 |
| KIF5B-ALK | TRIM24-NTRK2 | EZR-ROS1 |
| KLC1-ALK | ETV6-NTRK3 | GOPC-ROS1 |
| STRN-ALK | SQSTM1-NTRK3 | LRIG3-ROS1 |
| TFG-ALK | CCDC6-RET | SDC4-ROS1 |
| TPR-ALK | CUX1-RET | SLC34A2-ROS1 |
| CD74-NTRK1 | KIAA1217-RET | TPM3-ROS1 |
| IRF2BP2-NTRK1 | KIF5B-RET | |
NGS results are delivered via a Qiagen Clinical Insights (QCI) report that includes:
- Genomic variants that have been shown to have clinical relevance
- Pathogenicity and level of clinical significance according to clinical guidelines
- Predicted protein changes
- Relevant drug treatments or resistance to drugs based on the genetic variants
- Relevant active clinical trials for patients that would harbor the same genomic variants as were identified in the biospecimen sample
Additional characterizations are available through our expert, integrated service laboratories,
included ctDNA for liquid biopsy applications:
Applications:
SpecimenSeq™ delivers reliable, well-characterized study cohorts to enable faster
Development and validation of novel liquid biopsy solution
Verification of the presence of biomarker targets in your populations of interest
Confirmation of driver mutations and other clinically relevant genomic variants across FFPE and plasma samples
Acceleration of timelines for identifying responders versus non-responders, efficacy evaluations, and discovery and validation of biomarker signatures for new cancer therapies
Advantages:
Quality and Reliability
- All of our SpecimenSeq sets are fully consented, ethically obtained biospecimens
- SpecimenSeq sets are managed by a single chain of custody from sample collection through characterization and delivery to your lab
Biospecimen Matched Sets
(same donor, different sample formats):
- FFPE
- Matched double spun plasma, processed within 4 hours of collection
- Buffy coat (optional) for germline controls
Genomic and Clinical Characterizations
- FFPE is characterized by 60+ clinically relevant genomic variants via a custom HAD QGEN MultiModal Panel dual RNA and DNA analysis service, available exclusively through HudsonAlpha Discovery
- Basic clinical data and pathology reports
- Actionable results are delivered via an integrated Qiagen Clinical Insight (QCI) report incorporating key clinical and genomic variant data
Global Access and Diverse Selection
- Our global clinical network – Discovery Partners – supply and replenish Discovery’s banked inventory and support our clients’ prospective collection projects
- Characterization of banked inventory is continuous and ongoing. Contact us to discuss our available inventory and reserve specimens
Submit Requests
Request a current inventory report, submit inventory requests, or submit SpecimenSeq™ questions in the form below.
