A new test that has just arrived in Spain, as announced by the company specialized in reproductive genetics Iviomics, allows analyzing 400 genetic mutations of each member of a couple, and is able to predict the possibility of parents transmitting their future children to 100 monogenic diseases.

After conducting a blood test to the couple, and through the technology of massive sequencing, the new test analyzes those 400 genetic mutations that are the cause of the 100 genetic diseases more frequent, checking if the two members of the couple have an identical alteration in the same gene, since, if so, they could transmit this mutation to their offspring, and the future baby could suffer a serious illness.

The new test analyzes the 400 genetic mutations responsible for the 100 most frequent genetic diseases

Among the pathologies that children of people with genetic alterations can inherit and that it is possible to detect with this genetic compatibility test, cystic fibrosis, Gaucher's disease, sickle-cell anemia, fragile X syndrome, non-syndromic hereditary deafness stand out , or spinal muscular atrophy.

These diseases, which have an overall prevalence rate of 10 per 1,000 newborns, cause high early mortality and negatively affect the quality of life of patients, so that experts estimate that they could be responsible for between 30 and 40 percent of pediatric interventions in hospitals. Therefore, it is vital to be able to determine in time the genetic alterations of both parents to prevent the child from inheriting the disease.

New test could identify 3,500 genetic disorders in fetus (November 2019).