On Monday 12 September, Carolina Orrite, Field Application Specialist at BDR, participated in the 2nd Cycle of Experts in Human Molecular Genetics organised by our distributor Annar Health Technologies.
The session, which took place online, covered several points. It began with an introduction to BDR, explaining the Genvinset® and Adellgene® product lines and the groups of pathologies that can be diagnosed.
Subsequently, the Adellgene® line, which allows the molecular diagnosis of rare triplet repeat disorders using fluorescent fragment analysis technology, was discussed in depth.
The technology on which this product line is based was also briefly discussed: fragment analysis, consisting of TP-PCR (Triplet repeat primed PCR) and capillary electrophoresis, as well as the workflow to carry out the diagnostic protocol for these triplet expansion diseases.
An example of the results obtained and the quantification of repeats both manually and automatically with our software Adellgene® Triplet Repeat Calculator was also shown.
Finally, a small clinical practice was performed with the introduction of the 5 triplet repeat diseases for which we have developed a diagnostic kit:
- Fragile X syndrome
- Huntington’s disease
- Spinocerebellar ataxias (SCAs)
- Myotonic dystrophy
- Friedreich’s Ataxia
In this part, we discussed the general aspects of the diseases, the molecular basis of the pathology, the genetic inheritance pattern, their current treatment, and a short commentary on what the EMQN and ACMG guidelines mention about the analysis of triplet expansion in these diseases and the technique used.
You can also watch the recording of the webinar here: