Screening for rare genetic disorders and other disease families such as coagulation disorders, cancer predisposition and others, was traditionally done using conventional genotyping of sets of limited number of known mutations. With the advent of NGS, it is now clear that sequencing panels of whole genes can provide increased accuracy and sensitivity in a cost effective manner.
Using the comprehensive data in the GeneCards Knowledgebase, TGex easily provides all the relevant biological, molecular and clinical information for each known or novel identified mutation, making report generation with data collection simple and automatic.
Identifying mutations in such disease panels and importantly, providing all up-to-date clinical information about them, is critical for early diagnosis that could potentially be life-saving (like cases of cancer predisposition and other acute diseases). It is also highly effective in the case of genetic counselling for carriers of mutations for rare genetic disorders, and can improve the life quality in the case of chronic diseases, offering actionable guidelines such as novel treatments or changes in life-style.