Overview:

Conduct smarter oncology R&D faster with SpecimenSeq

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.

Deliverables & Characterization:

Matched Biospecimen Sets, same donor across different sample formats
Biospecimen FormatQuantityCharacterization Reports
FFPE1
  • Clinical Information and pathology report
  • HAD QGEN MultiModal service with Qiagen Clinical Insights (QCI) report
Double Spun Plasma4 mL
  • Clinical Information and pathology report
Buffy Coat (optional)~0.3 mL
  • Clinical Information and pathology report
NGS Characterization
DNA Gene Content (64 genes)
ABL1CDH1ERFLT3IDH2MLH1PDGFRASMAD4
AKT1CDKN2AERBB2FOXL2JAK2MPLPIK3CASMARCB1
ALKCSF1RERBB4GNA11JAK3MSH2PMS2SMO
APCCTLA4EZH2GNAQKDRMSH6PRSRC
ATMCTNNB1FBXW7GNASKITMUM1PTENSTK11
BCL6DDR2FGFR1HNF1AKRASNOTCH1PTPN11TP53
BRAFDNMT3AFGFR2HRASMAP2K1NPM1RB1TSC1
CD10EGFRFGFR3IDH1METNRASRETVHL
RNA Gene Fusion Content (6 primary genes)
EML4-ALKMPRIP-NTRK1NCOA4-RET
GCC2-ALKSQSTM1-NTRK1TRIM33-RET
HIP1-ALKTPR-NTRK1CD74-ROS1
KIF5B-ALKTRIM24-NTRK2EZR-ROS1
KLC1-ALKETV6-NTRK3GOPC-ROS1
STRN-ALKSQSTM1-NTRK3LRIG3-ROS1
TFG-ALKCCDC6-RETSDC4-ROS1
TPR-ALKCUX1-RETSLC34A2-ROS1
CD74-NTRK1KIAA1217-RETTPM3-ROS1
IRF2BP2-NTRK1KIF5B-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 cfDNA for liquid biopsy applications:
IHC Services
Learn More
Cell Services
Learn More

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

Contact us

Contact us today to learn more about inventory availability and characterization timelines.