There are more than 2000 reported genetically determined diseases that are thought to have “a gene”. With the help of a clinical geneticist, who gives the first and very important hint as to the genetic background of a given syndrome, KitGen employs both Sanger as well as the high-throughput Next Generation Sequencing approach to search for the pathogenic mutations which lie behind severe genetically determined syndromes in the index persons or the index families.
Once the causative mutation has been identified, it can be used for genetic counselling, optimal management of the patient, treatment amendment, in vitro fertilization programs and comprehensive prenatal diagnostics.
To date the list of assays for syndromes and associated genes reaches almost one hundred. Upon clinical request, any other gene (set of genes) can be added into the present portfolio.