In comparison to conventional genetic tests, which study only a number of mutations, the Carrier Screening Panel based on Next Generation Sequencing (NGS), has increased the possibilities and efficiency of analysis, as it can simultaneously test hundreds of alterations.

For this reason, the advantages in costs and performance are undeniable, compared to previous forms of analysis, which would be unviable due to the excessive time required to obtain results, and lack of profitability. Therefore, this new genetic sequencing technology is more accessible to health services.

Carrier Screening Panel as a tool for prevention

Generally, there is a lot of awareness about the prevention of diseases such as trisomies, using tools such as prenatal diagnosis. However, this in only one of many genetic pathologies which can be prevented.

Carrier screening panels have become a key tool in the diagnosis of many potential diseases, which in statistical terms are more common and have a greater overall impact than trisomies.

Thanks to this method, it is possible to study the alterations in 420 genes and 30 CNVs simultaneously, which are all associated to hereditary recessive diseases.

When we speak of recessive diseases, we mean those in which the subject has inherited two mutations, one from each parent. When the subject inherits only one mutation, he/she is a carrier of that alteration. This means that the progenitors are not affected by the pathology, but can transmit the abnormal gene onto their offspring. This is the case for diseases such as Cystic fibrosis and Beta thalassemia.

The statistical data is key. We must not forget that on average everyone could potentially be a carrier of 14-18 serious recessive genetic mutations. However, thanks to these genetic analyses mutations can be detected and removed from the family line by avoiding their transmission onto descendants.

This link will allow you to read the list of genes which are analysed in the Carrier Screening Panel and the diseases which they are associated to.

Who should consider a Carrier Screening Panel

The Carrier Screening Panel based on NGS is a preconceptional test which is especially useful for consanguineous couples who are at a higher risk of having offspring with a genetic recessive disease. As previously mentioned, the progenitors may not show the condition but their children potentially could.

In some ethnic groups, certain recessive genetic diseases are a common occurrence in the population. As a result of reproductive isolation due to historical and demographical reasons, these communities will have a very narrow gene pool, in comparison to other populations which are free to mix with others. This is one of the main reasons why sometimes “rare” hereditary diseases are common in these isolated populations.

For couples who wish to complement their diagnostic tests for assisted reproduction procedures, Carrier Screening Panels are a very useful tool for detecting the presence of potential genetic alterations which can lead to recessive hereditary diseases in their future children.

In the genetic selection of sperm and oocytes the carrier sequencing panels allow the analysis of genetic compatibility between gametes to avoid combinations which could possibly result in a child with a recessive pathology or other avoidable alterations.

Without a doubt, the Carrier Screening Panel by NGS allows for the analysis of complex associations between genes and diseases, and provides results from a fast, cost-effective diagnosis for professionals, patients and their families.

For any questions you may have please ask us and we’ll advise you on the details of the NGS Carrier Screening Panel.