Description
High-precision next-generation IXOME whole exome DNA sequencing on modern equipment with fast data processing. The results are interpreted by experienced geneticists and bioinformaticians who have conducted more than 5000 NGS studies. The study allows establishing the molecular cause of the disease through changes in the exome DNA, ensuring unique quality control and high reading accuracy with a sequencing depth of 100x. All studies are performed on modern Illumina equipment, including NovaSeq 6000.
In approximately 25% of patients with monogenic diseases, a molecular diagnosis cannot be established by classical methods. Many hereditary diseases have a heterogeneous nature: this applies to both rare and relatively common pathologies, such as sensorineural hearing loss, neuromuscular diseases, and retinitis pigmentosa. In such cases, identifying the mutation requires analyzing several dozen, and sometimes more than a hundred genes – a task solved by high-throughput genomic analysis methods.
Whole exome sequencing is the reading of all exons, i.e., protein-coding regions in the genome. Humans have about 180,000 exons, which constitutes approximately 1% of the genome size, or approximately 30 million base pairs. At the same time, approximately 85% of deviations causing hereditary diseases occur in this part of the genome. Therefore, exome study is an effective and important tool in genetics, and also replaces expensive analyses of individual genes.
Period of execution
Within 51 days. The specified time does not include the day of biomaterial collection
Biomaterial type