The most comprehensive genetic analysis available, identifying the widest range of genetic variants that may contribute to genetic disorders. Provides maximum insight into potential genetic changes, enabling more accurate diagnostics and personalized treatment strategies.
Types of genetic alterations determined by whole genome sequencing:- Single-nucleotide and multinucleotide variants (SNVs and MNVs)
- Small insertion-deletions (in/del) of up to 50 nucleotide pairs
- Gene copy number variations (CNVs) such as deletions/microdeletions and duplications/microduplications of various sizes
- Sites of loss of heterozygosity and uniparental disomy
- Variants in mitochondrial genome with >5% heteroplasmy detection
- Balanced chromosomal changes with breakpoint detection (with restrictions)
- Expansion of tandem repeats in 37 genes (with limitations)
Unlike other studies, WGS determines the presence ofall variants not only in coding regions of the genome (exons) but also in non-coding regions (introns, non-translated regions, intergenic regions), which account for up to 5% of pathogenic genetic variants.
We provide comprehensive exome sequencing to determine the structure of all coding regions (exons) across the genome.
Our study includes both clinically significant genes and all other human genes, offering detailed insights into genetic variations that may impact health and disease.
Types of genetic alterations determined by whole exome sequencing:- Single-nucleotide and multinucleotide variants (SNVs and MNVs) in exons of all genes;
- Small insertion-deletions (in/del) of up to 50 nucleotide pairs
- Gene copy number variations (CNVs) such as deletions/microdeletions and medium to large size duplications/microduplications (fringing).
With whole exome sequencing, our clients gain access to a comprehensive genomic analysis that empowers researchers, clinicians, and healthcare professionals to better understand the complexities of human genetics, advancing personalized medicine and targeted therapeutic strategies.
With the comprehensive suite of NGS solutions, we empower researchers across multiple fields, from clinical genomics to agriculture and beyond. Our NGS services include Targeted Sequencing/Panels (TCS), RNA sequencing and Spatial transcriptomics, Single-cell sequencing, Metagenomics, Epigenomics, Agrigenomics, Genotyping by sequencing (GBS) services for SNP discovery, ChIP-Seq, Amplicon Sequencing, MethylSeq.
We also provide the service of Next Generation Sequencing Library Preparation which includes the libraries for various tests: Whole Genome Sequencing, Exome Sequencing, Targeted Sequencing, Amplicon Sequencing, RNA Sequencing, Deseases focused on panels, and more.