Next-generation sequencing has evolved into a powerful diagnostic tool helping thousands get answers to the most challenging diagnostic dilemmas. Yet, despite advances in genetics through next-generation sequencing panels, whole exome sequencing, and even whole genome sequencing, a precise genetic diagnosis still eludes many patients with presumed neurological disease. 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 likely disease-causing variant. Additionally, this analysis can detect gene functionality and determine expressivity in specific tissue types. To read more information regarding clinical indications for ordering transcriptome analysis, click here.
The MNG Transcriptome is a cutting-edge, powerful analysis tool that uses RNA sequencing to determine what effect, if any, a VUS may have on the transcription of RNA from DNA, especially those found in splice site regions. This diagnostic assay 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 as a reflex to any NGS panel, or in conjunction with our MNG Exome or MNGenome®.
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.
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.
Detects up or down regulation of transcript levels
Detects changes in the relative abundance of transcript copies with tissue-specific effects
Detects up or down regulation of gene expression levels
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
MNG Labs offers RNA sequencing services for a variety of sample types, including: blood, fibroblasts, muscle tissue, and brain and nerve 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.