
Our Genomic Testing Solutions:
| WES | WGS | Long-Read Sequencing | |
|---|---|---|---|
| Method | NGS (Next-Generation Sequencing) – Short-Read Sequencing | NGS (Next-Generation Sequencing) – Short-Read Sequencing | Third-Generation Sequencing – Long-Read Sequencing |
| Coverage | ~20,000 Genes | Whole Genome | Whole Exome/Genome + Analysis of DNA/RNA Modifications and Complex Genomic Regions |
| Applications | • Neurodevelopmental and metabolic disorders in newborns and early childhood • Clinical presentations suggestive of a genetic etiology based on family history but unexplained by standard genetic testing • Adult patients with inconclusive standard genetic test results • Rare, complex developmental and functional disorders with diagnostic challenges • Risk assessment for familial predisposition disorders • Personalized dietary and nutritional planning based on nutrigenomic information • Personalized treatment planning based on pharmacogenomic information (treatment-specific efficacy and adverse effect assessment) | • Rare and undiagnosed diseases • Prenatal genetic investigations • Pediatric genetic disorders • Multisystem clinical presentations • Cases with suspected hereditary disorders • Suspected mitochondrial diseases and personalized health management applications | • Clinical presentations unexplained by standard genetic testing, WES, or short-read WGS analyses • Disorders suspected to involve large DNA alterations and chromosomal rearrangements • Neurological diseases associated with repeat expansion disorders • Complex genomic rearrangements, rare and undiagnosed genetic diseases • Pseudogene-associated disorders • Suspected mitochondrial diseases • Advanced prenatal genomic investigations • Pediatric genetic disorders • Cases requiring advanced genomic characterization |
| Analytical Capabilities | Analysis of SNVs, InDels, CNVs, and mitochondrial DNA variants | Analysis of SNVs, InDels, CNVs, and mitochondrial DNA variants | Analysis of SNVs, InDels, CNVs, STRs, translocations, pseudogene regions, mitochondrial DNA variants, methylation, and epigenetic alterations |
| Key Feature | Analysis of coding regions with variant classification (Pathogenic / VUS / Benign) | Analysis of coding and non-coding regions | Analysis of complex genomic regions, epigenetic alterations, and transcriptomic regions |
| Sample Requirements | EDTA Blood Amniotic Fluid CVS Buccal Swab | EDTA Blood Amniotic Fluid CVS Buccal Swab | EDTA Blood Amniotic Fluid CVS Buccal Swab |
| Turnaround Time | 4–5 Weeks | 4–5 Weeks | 4–6 Weeks |
* Intelligene is a trademark of Nesiller Genetic Diagnosis and Information Services Inc.
** Analysis of mitochondrial DNA provides valuable insights for the diagnosis of neurological, muscular, and metabolic disorders.
*** Please contact us for sample submission requirements.
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