Next-generation sequencing has evolved into a powerful diagnostic tool helping thousands get answers to the most challenging disease diagnosis. Yet, despite the significant advances in clinical genetic diagnosis through the application of next-generation sequencing-based gene panels, whole exome sequencing, and even genome sequencing, a precise genetic diagnosis still eludes nearly 50% of patients with presumed neurological disease. Even with these robust sequencing methods, many diagnostic reports may include one or more Variants of Uncertain Significance (VUS) that are hard to interpret as being potentially pathogenic or uninvolved.
RNA Sequencing can help re-classify a VUS, both in coding and non-coding regions, as a disease causing variant. Additionally, this analysis can detect gene functionality and determine expressivity in an individual or specific tissue types.
The MNG Transcriptome™ is a cutting-edge, powerful analysis tool that uses RNA sequencing to determine what effect, if any, Variants of Uncertain Significance may have on the transcription of RNA from DNA, especially those found in splice site regions. This new commercially available diagnostic can be applied to any phenotype to assess the functional impact of a variant on gene expression.
While transcriptome analysis is commonly used in cancer diagnostics, it can also be applied to any phenotype to assess the functional impact of a variant on gene expression. This complete approach can be ordered at the time of initial testing, as a reflex to any NGS panel, or in conjunction with our MNG Exome™ or MNGenome®.
Panel-Specific RNA Sequencing
The Panel-Specific RNA Sequencing service can be ordered as an add-on to any of MNG Laboratories’ NGS panels and will only include the additional analysis of genes listed in the panel.
Gene-Specific RNA Sequencing
The Gene-Specific RNA Sequencing Targeted Analysis includes up to five genes for variant investigation following a report with a VUS identified in a splice site or intronic region, or the variant is noted to have a potential effect on splicing. Previous sequencing analysis can be done at any laboratory.
How RNA Sequencing Can Improve Diagnostic Outcomes
Detection of Transcription Levels
Detects up or down regulation of transcript levels
Detects changes in the relative abundance of transcript copies with tissue-specific effects
Gene Expression Levels
Detects up or down regulation of gene expression levels
Detection of Residual Gene Functionality
Confirms any effect of intronic or coding sequence mutations on the process of splicing
Identifies effects on gene functionality due to deletions of exons
Confirms functional effects and potential pathogenicity of a reported VUS
Tissues Validated for RNA Sequencing
To provide the most robust diagnostic testing in the marketplace, MNG Labs is proud to offer RNA sequencing services for a variety of sample types, including: blood, fibroblasts and lymphoid cell lines, and muscle tissue.
Due to the variability in transcription and expression levels of genes across the human genome, we recommend that all requests for sequencing be coordinated with our in-house scientific team to maximize the potential for diagnosis.
Sample collection kits are provided for all RNA sequencing performed on blood due to the unique collection requirements. Please contact MNG Labs for more information.