Preconception Carrier Screen detects over 9,000 mutations across 148 genes, for more than 150 genetic disorders. Couples who are already pregnant and who wish to know more about the genetic health of their pregnancy.People with a family history of a genetic disease or from an ethnic background known to be at risk for certain genetic diseases and who are therefore at higher risk of being carriers for those diseases.Individuals or couples receiving donor sperm or eggs and who want to select a donor that doesn’t carry the same mutation as the member of the couple who will provide the gametes.Individuals or couples who want to know more about their genetic status in order to make more informed reproductive decisions.Who should consider Assuregene Extended Carrier Screening? These regions are sequenced with high coverage and compared to the normal variation standards and reference database. Next Generation Sequencing (NGS) technology is used to analyse exons in different genes, as well as selected in-tergenic and intronic regions. Flexible: comprehensive or targeted panel options available.Cost effective: screen for multiple diseases with high accuracy.Safe: test from just peripheral blood or blood spot card.In many cases, parents aren’t aware they are carriers and have no family history due to the rarity of some diseases in the general populations. Assuregene Extended Carrier Screening is an important tool for prospective parents to help them determine their risk of having a child affected with a heritable disease.

Usher syndrome type 2a carrier