Next generation sequencing (NGS)
One of the Intelliseq’s clinical services is genetic testing for medical purposes, which involves DNA or RNA analysis and screening, consulting services in the field of genomics and biological sequence processing and analysis. Intelliseq offers health care services, namely, genomics and data science to provide optimal health and disease prevention to patients. The services provide personalized health information based on genetic information and bioinformatics analyses for medical diagnostic and personalized treatment purposes.
- In order to find pathogenic variants in people suffering from rare diseases and their families, we offer:
- Whole-Exome Sequencing - identification of single nucleotide polymorphisms and short insertions/deletions that are potentially responsible for a clinical profile of the patient.
- Whole-Genome Sequencing - additional sequencing of introns and DNA regulatory sequences. Identification of single nucleotide polymorphisms, shorts insertions/deletions, copy-number variations, and mosaic chromosomal aberrations.
- Dynamic multi-gene panels - sequencing of genes associated with a specific disease or individually adjusted to the patient’s phenotype, generated via our “GENETRAPS” system.
- Genetic profiling of cancer tissues for identification of causative mutations, chromosomal aberrations and mosaicism. The results are provided as summary report that includes a comprehensive list of previously described cases and cancer types with the identified mutations.
DNA sequencing is performed by the lab certified with American College of Pathologists (CAP) certificate, US FDA - 21 CFR compliant laboratory process, ISO/IEC 17025:2005, ISO9001 , ISO14001, ISO27001, OHSAS18001. Our clients are provided with access to a platform, which enables additional options for variants filtering and prioritization.