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RNA Sequencing

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


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

RNA Sequence Icon

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

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Detection Of Gene Expression Levels

Detects up or down regulation of gene expression levels

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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

Icon Verfication

Verification Of VUS Effects

Confirms functional effects and potential pathogenicity of a reported VUS