We provide genomic insights for your patients.
What is the intended use of Summit?
Summit detects variants and chromosomal arm level alterations from tumor-derived DNA in CSF to help inform the diagnosis and management of primary and secondary CNS malignancies.
What does the Summit test evaluate?
Summit investigates tumor derived DNA extracted from cerebrospinal fluid for clinically relevant variants including single nucleotide, multi-nucleotide, and insertion/deletion variants, along with chromosomal arm level loss/gain from DNA to aid in the diagnosis of primary and metastatic CNS cancers. Summit panel includes 32 genes known to be associated with brain and spinal cord cancers.
Summit Gene Panel
Genes evaluated for select SNVs, MNVs, and Indels
| AKT1 | CDH1 | ERBB2 | FGFR2 |
| GNAS | IDH2 | NRAS | SMAD4 |
| APC | CDKN2A | ERBB3 | FGFR3 |
| H3F3A* | KRAS | PIK3CA | TERT |
| BRAF | CTNNB1 | ERCC2 | FUS |
| HRAS | MYD88 | PTEN | TP53 |
| CD79B | EGFR | FBXW7 | GATA3 |
| IDH1 | NFE2L2 | RAF1 | VHL |
SNV-single nucleotide variant; MNV-multinucleotide variant; Indel-insertion and deletion. *Also known as H3-3A
To learn more about tumor derived DNA in CNS tumors, click or tap on this link to see the lecture, “Applications of CSF Tumor DNA as a Biomarker for CNS Tumors” as presented at SNO/ASCO 2024.
What methodology is used for performing Summit?
Methodology involves targeted duplex sequencing of 32 key genes (SNVs, MNVs and Indels) and low pass whole genome sequencing (>0.1x) for aneuploidy (chromosomal arm level loss or gain). Post target enrichment, libraries are sequenced on the Illumina® NovaSeq XPlus. Sequencing data is processed through custom bioinformatics pipelines. Variants are called against the human genome build reference hg19.
What is the intended use of Vantage?
Vantage uses tumor derived DNA (tDNA) to provide prognosis for newly diagnosed high grade glioma patients. With methylation of MGMT, this corresponds to better therapeutic response to alkylating agents (e.g. temozolomide). Vantage can be ordered simultaneously with Summit.
What does the Vantage test evaluate?
Vantage test uses quantitative polymerase chain reaction methodology to evaluate MGMT (O-6-methylguanin-DNA methyltransferase) promoter methylation status in tumor derived DNA extracted from cerebrospinal fluid of known or suspected central nervous system tumors. The Vantage test reports a qualitative result and is interpreted as “Positive – Methylated,” “Negative – Unmethylated” or “Indeterminate – Results Equivocal.”
What methodology is used for performing Vantage?
The methodology optimizes performance on enzymatically converted tumor-derived DNA in CSF which minimizes DNA damage.1 It targets 12 cytosine-phosphate-guanine (CpG) island sites (#72-83) within exon 1 of the MGMT gene. The assay uses qPCR (quantitative polymerase chain reaction) followed by high-resolution melt analysis using the EpiMelt MGMT assay (MethylDetect®). Methylated and unmethylated melting temperature peaks are evaluated. Specimens with results above the validated 25% methylated control are interpreted as “Positive – Methylated.” When a peak detected aligns with the control that is unmethylated, results are reported as “Negative – No MGMT methylation detected.” Specimens with results between unmethylated and methylated control are interpreted as “Indeterminate – Results Equivocal.” Vantage testing can be performed on the same specimen as Summit.
How can we learn more about the Summit and Vantage tests?
Belay Diagnostics technical bulletins are available for download:
Where can we review the Summit and Vantage assay specifications?
Belay Diagnostics assay specifications are available for download:
Can we obtain data files?
Belay Diagnostics does not provide raw data files.
Reference
1. New England Biolabs, Inc. NEBNext® Enzymatic Methyl-seq (EM-seq™). Updated April 2019. Accessed May 20, 2024.
