Full genome sequencing by Genome UNIPRO
Full genetic sequencing is a highly accurate molecular genetic test that determines the complete sequence of DNA located in both the cell nucleus and mitochondrial structures. This method is currently the most informative and comprehensive, as it allows the identification of a wide range of genetic changes that can cause hereditary diseases.
Types of changes detected in this study:
- Single and multiple nucleotide substitutions (SNV, MNV);
- Small insertions and deletions (up to 50 base pairs);
- Copy number variations (CNV), including both partial losses and duplications of fragments of different lengths;
- Detection of regions that have lost heterozygosity, as well as identification of single-parent disomy;
- Identification of mutations in mitochondrial DNA, including cases of heteroplasmy above 5%;
- Detection of breakpoints in balanced chromosomal rearrangements (with technical limitations);
- Testing for extended tandem repeats in 37 genes (subject to limitations of the method).
Methodology and diagnostic value:
The test is performed using next-generation sequencing (NGS) technology with a coverage depth of at least 30× — each DNA fragment is reviewed an average of 30 times, ensuring high accuracy of results.
When used as a primary test, the method allows the exact genetic cause of the disease to be established in 50% of patients. If sequencing is performed after other tests, additional information is found in 5–8% of cases, mainly due to the test of non-coding regions and high-precision CNV assessment