Validating Whole Exome Sequencing and Whole Genome Sequencing results
How may times a Variant of Uncertain Significance (VUS) is detected in WES or WGS? With our mRNA assay, we can assess the real clinical meaning of VUSes, especially when they are candidate splice mutations.
Starting from special tubes
RNA is a very delicate molecule, as it gets degraded very soon. With our special collection tube, the peripheral blood can be smoothly collected. Then, the blood can be stored and transported at room temperature for several days, as the stabilizer in the tube will preserve the nucleic acid very well.
Trust the state-of-the-art of our RNA extraction protocols, based on top quality extraction kits.
Quantitative PCR is the best way to examine the differential allele expression and then assess the pathogenicity of any mutation of interest.
cDNA or RNA sequencing
To accomplish custom assay, we can also provide you with sequencing of cDNA or directly RNA. For your needs in mutation significance assessment, simply try our:
- mRNA assay