The performance of this panel is optimal for genetic confirmation of HHT, increasing with the number of clinical criteria of the disease. It is estimated that the probability of detecting a mutation in ENG or ALK1 genes is 85% in patients who meet the four Curaçao criteria, but is much smaller (less than 40%) in patients with an atypical presentation, for example without epistaxis. The current method – panel including 6 priority genes – avoids repeating new genetic studies, thus speeding up the delivery of results.The yield of the offered 6-gene panel allows the diagnosis of any of the genes defined so far. Mutation detection in these genes is done by Next Generation Sequencing (NGS), which is the currently recommended method and can detect previously undefined mutations. Both the clinical setting and the cosegregation study in relatives are of utmost importance for this, as they would support the pathological value of the detected mutation. In addition, knowing the cases described in the literature with a particular mutation will also contribute to its clinical interpretation.