mRNA assay

Description

Tasting the capability of mutations to disrupt the splicing process and generate pathogenic alleles. With our mRNA assay, you can prove the impact of such mutations, from synonymous, to missense, to deep intronic.

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.

RNA extraction

Trust the state-of-the-art of our RNA extraction protocols, based on top quality extraction kits.

qPCR

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

Technical specifications

Method

Differential allele expression profiling based on quantitative PCR.

Sample specifications

2ml of peripheral blood in our RNA preserving tubes (contact us to receive the tubes for free).

Timing

8-12 weeks.

Availability

Per Professionisti e Laboratori: registrati qui per inserire il tuo 1-minute online order. Per Pazienti: inviare una richiesta a info@bredagenetics.com

Limitations

Due to the particular sequence conformation in certain DNA regions, mRNA testing may fail in producing reliable traces of mRNA expression. Alterantive assay may be offered in such instances.

Advice

To learn more about the use of mRNA assay in the assessment of deep intronic mutations, read here.

Other

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No minimum number of samples required!

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