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. To read more information regarding clinical indications for ordering transcriptome analysis, click here.


MNG Transcriptome™

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

Detection of 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

Verification of VUS Effects

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.

Our Promise

MNG Laboratories is committed to a patient-centered testing menu, high-quality diagnostics, and first-in-class reporting driven by our Genome MaNaGer® analysis pipeline. Our customized reporting process helps us stay at the forefront of the evolving genetics field with our regularly-updated NGS panels.

Our team-based approach to variant assessment ensures we provide you with the variants that cause or are likely to cause disease and keep the number of variants of unknown significance to a minimum. Our comprehensive approach to diagnostics is accompanied by a team of customer support and scientific personnel available to answer your questions regarding our process, technology, and reports. Please contact us to learn more about how we may serve you and your patients.