Dr. José Antonio Ortiz gives a lecture on the MLPA technique in a platform specialized in genetic training.

The specialized portal Genotipia invites Instituto Bernabeu for its experience in the execution of this advanced genetic analysis method.

Dr. José Antonio Ortiz, biochemist and molecular biologist at Instituto Bernabeu, has recently participated in the course on molecular biology and genetics techniques organized by Genotipia, a training platform in Medical Genetics.

In his intervention, Dr. Ortiz gave a lecture on MLPA, a technique for the detection of gains or losses of genetic material using specific probes, as part of the course entitled ‘Techniques for genome analysis’.

The MLPA technique ‘is a common technique used in the laboratory, but it is a delicate technique’, as the Instituto Bernabeu specialist explained. Precisely, this was one of the reasons why Genotipia requested the participation of Instituto Bernabeu in the course: ‘We have been performing this technique for a long time and we know it very well, so we are able to share our experience with the students’, explained Dr. Ortiz.

The MLPA technique represented a great advance in the area of diagnosis and a great benefit for patients by systematizing the analysis of CNVs (copy number variants), a relatively frequent type of genetic alteration that was very complex and costly to identify. In addition, the level of diagnosis achieved by MLPA is far superior to that allowed by alternative methods.

In the lecture, Dr. Ortiz explained how MLPA complements genetic studies that are limited to analyzing point mutations in DNA by allowing the identification of duplications and deletions in the genes analyzed. He also highlighted how advances in technology, such as the introduction of Mass Sequencing (NGS), are marking a new horizon in genetics and could become a technique replacing MLPA in the future, although for the moment it is still key in some clinical and research studies.