GEM ExTra®
Introducing the GEM ExTra®, Ashion Analytics™ flagship clinical assay.
The GEM (Genomic Enabled Medicine) ExTra® test provides treating physicians with vital interpreted information they need to understand changes to their patient’s genomic profile, and outline a therapeutic treatment plan best-suited for them. Conditions that may benefit from this approach include treatment of refractory, rare, or aggressive cancers.
Ashion Analytics' laboratory, data analysis and interpretation approaches compare the sequence of genes in both tumor (somatic) and normal (germline) DNA.
Concomitant analysis of germline DNA allows for quick identification of true somatic alterations and maximizes the likelihood of identifying tumor-specific variations with an accuracy of >99%. This allows drug relationships to be based solely on tumor-specific DNA alterations, thus increasing treatment safety.
Our team has pioneered this approach since 2010. Recent studies of importance support analysis of both tumor and normal specimens.
The data from this research suggests that matched tumor-normal sequencing analyses are essential for precise identification and interpretation of somatic and germline alterations, having important implications for the diagnostic and therapeutic management of cancer patients.
GEM ExTra® Test Details
- Whole Exome sequencing—to identify point mutations, amplifications and deletions, and translocations/structural variants in the full set of protein-coding genes and in therapeutically actionable non-coding regions (e.g., TERT promoter, common translocation junctions).
- Whole Transcriptome sequencing—to identify the expression of RNA transcripts that may guide therapy (e.g., targetable gene fusions).
- Tumor/normal exome subtraction—to help clearly distinguish somatic mutation from benign background variation.
- Results are presented in single, integrated report with a cover page summarizing potentially clinically actionable findings, including:
- On- and off-label therapeutic options, including contra-indicated drugs
- Clinical trial options
- Markers to help guide checkpoint inhibitor therapy (MSI, TMB, and optional PD-L1 IHC)
- Turnaround time is 14 days.
- Unstained slides: 10 from a single tumor, ≥ 50 microns total + H&E slide, or;
Key Technical Highlights
- Regions Analyzed: A proprietary exome platform covering the exons of all known human genes and select promoters and introns relevant to cancer (e.g., TERT promoter, introns that participate in oncogenic fusions). The test also includes whole-transcriptome RNA profiling for fusions and transcriptional variants known to be relevant to cancer (e.g., EGFR vIII).
- Sequencing Method: Targeted enrichment followed by sequencing on a NovaSeq 6000 (Illumina, Inc.).
- Analytics: Methods include analysis of single nucleotide variants, insertions/deletions, structural variants, focal and whole genome copy number.
- Assay Sensitivity: 99.3%
- Assay Specificity: >99%
- Assay PPV: 99.5%
- Assay Precision: >95.7%
- Coverage: 500x
- Turn-around Time: 14 days.
- Test Requirements: Solid and Heme tumors accepted – see specimen requirements on submission form.
- Sample Types:
- Solid Tumor:
- At least 25mm² solid tumor or;
- 3-5 core needle biopsies in one or more FFPE blocks or;
- Unstained slides: 10 from a single tumor, ≥ 50 microns total + H&E slide, or;
- Fresh Frozen Tissue (contact for details)
- Hematological Malignancies:
- Bone Marrow aspirate – 3-5mL EDTA <48 hours old
- Normal:
- Blood – 5ml in EDTA, less than 7 days old
- Saliva – Oragene Dx collection vial
- Solid Tumor:
- DNA Input Required: ≥ 150 ng.
- RNA Input Required: ≥ 150 ng.