From over 20 years of research into Primary Adrenal Insufficiency, a panel of the most common causative mutations has been formed. Analysing the sequence of these specific genes speeds up diagnosis for the majority of patients. The genes on the panel are;
Using PCR to amplify the gene of interest we can then sequence the gene to check for common mutations. Sanger Sequencing works well for sequencing singular genes/exons within genes. However if no mutations are detected other techniques such as Whole Exome or Whole Genome sequencing can then be utilised. These sequencing tools cover the whole exome/genome and are therefore offer a superior way than analysing each gene independently.