Changes in service availability!
Currently, SIA GenEra does not offer next-generation sequencing (NGS) on-site due to the high laboratory workload. However, we, as industry experts, offer consultations and arrange the provision of these services in other laboratories abroad, if necessary. If you have questions or need next-generation sequencing services, contact us by calling 26267833 or writing firstname.lastname@example.org!
By design, exome sequencing reads only the coding portions of the genome, which is approximately 1–2% of the entire genome. This method is widely used in diagnostics to identify mutations that affect the structure and function of proteins — the genetic cause of autosomal dominant and recessive diseases; to find disease-causing mutations in diseases characterized by genetic and phenotypic variability. Exome sequencing is used in clinical practice to look for pathogenic variants in patients with unclear diagnoses, in the examination of young patients when all the symptoms of a disease may not have appeared, and therefore it is difficult to set a correct diagnosis. This method is also often used in prenatal diagnostics. To use this method more accurately and successfully in diagnostics, it is often necessary to examine the relatives of the patient. The trio—the patient and their parents—are examined most often.
Using this method, sequences of the coding portions of clinically relevant genes are read. Unlike whole-exome sequencing, only clinically relevant genes are purposefully analysed here, thus reducing the amount of data to look for a potential disease-causing mutation. When referring to this test, the doctor describes the patient’s medical history, possible diagnosis, and differential diagnosis, as well as, if known, the genes that need special attention when analysing the data (selected gene panel).