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GenEra laboratory offers tests using next-generation sequencing (NGS) with Illumina equipment and technologies.
Exome sequencing purposefully scans only the coding portions of the genome, which is about 1–2 % of the entire genome. This method is widely used in diagnostics. It can detect mutations that affect the structure and functions of proteins – the genetic cause of autosomal dominant and recessive diseases, the search for causal mutations for diseases characterised by genetic and phenotypic variability. The clinical use of exome sequencing includes search for causal variants in patients with unclear diagnoses and examination of young patients when all symptoms of a disease have probably not appeared yet, therefore it is difficult to determine the correct diagnosis. This method is also used in prenatal diagnostics. In order to use this method in diagnostics more accurately and successfully, often also the relatives of the proband need to be examined. Most often the trio – the proband and his/her parents – are examined.
Exome sequencing is performed using the Illumina TruSeq Rapid Exome library preparation reagent kit focusing on 45 Mb coding sequences, > 98 % RefSeq, CCDS and Ensembl coding information databases. This test requires 50 ng of good quality dsDNA. In a standard test, coverage of the genomic region is 50 x of at least 50 % of the sequence. If wider coverage is required, please ask the laboratory for prices and options.
The price for standard sequencing of one exome is from EUR 600 Euros, excluding data analysis. The price depends on the number of samples to be tested, therefore please contact the laboratory before referring patients.
Clinical exome sequencing
By using this method, sequences of clinically significant gene coding parts are read. Unlike sequencing of the whole exome, in this case only genes of clinical significance are purposefully analysed, thus reducing the search volume of causal mutations to several genes that might be involved in the course of the disease. When referring a patient for the test, a doctor shall describe the patient's medical history, possible diagnosis and differential diagnoses, and, if known, the genes that need special attention when analysing the data (the selected gene panel).
For clinical exome sequencing, we use Illumina TruSight One DNA library preparation reagent kit that covers 4813 gene coding portions. This test requires 50 ng of good quality dsDNA.
The standard price of one gene panel starts from EUR 660, including data analysis. The price varies depending on the size of the chosen gene panel, therefore we kindly ask doctors to contact the laboratory before referring patients for the test (phone: +371 67425241; +371 26267833; e-mail: email@example.com).