To identify disease-causing genes, numerous different ways are currently utilised. With the use of nextgeneration sequencing technology, different lengths of DNA, RNA, or entire genome sequences can be categorised simultaneously in a comparatively short amount of time. As a result, it is possible to generate a large amount of data in a single run, making this approach faster and more cost-effective than previously used methods. One frequently used next-generation sequencing method is wholeexome sequencing, which examines the complete coding sequence of every exon in an organism. The exon makes up just 1% of the whole genome, but it includes coding regions with a significant portion of small insertions and deletions as well as single nucleotide variations that are now known to cause Mendelian diseases. This study aimed to investigate possible disease-causing genes for a given rare genetic disorder using platforms QIAGEN - Clinical Insight and Ensemble. Exome data from a patient with a rare genetic condition together with clinical information and a family pedigree were provided. Data from whole exome sequencing was provided in the form of a VCF file uploaded to the QIAGEN - Clinical Insight platform for bioinformatic analysis. Through the process of elimination, the genes were narrowed down to 8 candidate genes that could present a valuable option for further research on the possible cause of the disease.