Signal Whole exome sequencing / Whole transcriptome sequencing (WES/WTS)

Sema4 Signal WES/WTS integrates tumor-normal matched DNA and RNA sequencing to deliver accurate insights regarding somatic and germline (inherited)1 alterations to inform treatment decisions for solid and hematological cancers allowing oncologists to:

  • Determine diagnoses and prognoses for solid and hematological cancers
  • Identify and select available targeted therapies, in accordance with level of evidence
  • Identify suitability of current clinical trials
  • Learn about hereditary contributions to various cancer types as well as non-cancer related conditions outlined in the ACMG recommendations for reporting of secondary findings in clinical exome and genome sequencing (with consent)1,2

 
Sema4 Signal WES/WTS captures data from ~18,500 genes and is considered the gold standard for determining tumor mutation burden (TMB)3 . This test can detect >99% of mutations associated with FDA-approved therapies, standard-of-care treatments, and investigational therapies in clinical trial4. For additional information, please download the clinical brochure.

Testing includes Microsatellite instability (MSI) and Tumor Mutation Burden (TMB). Options for PD-L1 Biomarkers and DNA Mis-Match Repair (MMR) analysis are also available.

Technical Specifications for PanCancer & WES/WTS
Abnormality typeSensitivitySpecificity
SNV/indels >99%>99%
CNV93%>99%
Fusions >99%>99%
Tumor Mutation Burden (TMB) >99%>99%
Microsatellite instability (MSI) >99%>99%

1 Please note that while some inherited genetic changes may be detected, these tests do not replace comprehensive germline testing. If an inherited condition is suspected in the patient or their family member(s), a different test with the purpose of examining germline genetic changes based on family and/or personal history may be appropriate.

2ACMG Recommendations for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing (ACMG SF v2.0). PMID: 27854360

3Büttner R, Longshore JW, López-Ríos F, et al. Implementing TMB measurement in clinical practice: considerations on assay requirements. ESMO Open 2019;4:e000442. doi:10.1136/ esmoopen-2018-000442.

4Based on an analysis of actionable alterations from OncoKB. For additional information, please see Chakrevarty D, Gao K, Phillips S, et al. OncoKB: A Precision Oncology Knowledge Base. JCO Precision Oncology. 2017.


Specimen Requirements

Specimen accepted:

  • For tumor: FFPE, Bone Marrow, Fresh Frozen, and Blood are accepted
  • For normal: Saliva, Buccal swab, and blood (if not involved in cancer)
  • Tumor/normal pair required
  • 10 unstained slides of tumor, 10 microns each and H&E, paired normal (if tissue, similar; if blood then one tube (EDTA tube) of blood, or saliva or buccal swabs

 

Minimal samples accepted:

  • FFPE: 9 unstained slides at 10 microns and 1 standard H&E; or 1 block
  • Fresh Frozen (5-10 mm3,)
  • Bone Marrow: 3-5 ml EDTA
  • Blood: 3-5 ml EDTA
  • Saliva: 2.0 ml
  • Buccal swab: 1 swab
  • Tumor cellularity: >=20%

 

Additional requirements:

  • All specimens must be labeled with two unique identifiers. Slides should also be labeled with a block label identity that corresponds with the surgical pathology report
  • Must include a surgical pathology report where available

Turnaround Time

  • Final results delivered in approximately 14-21 days from the time of specimen receipt by Sema4.

Resources

Signal WES/WTS Requisition
Sema4 Signal provider brochure