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Genomic Tests

Intelligene WGS/WES

Accurate diagnosis begins with genomic tests

Genomic Tests
Genomic testing plays an important role in the diagnosis of rare diseases, the assessment of hereditary risk, and the development of personalized treatment approaches. With advances in Next-Generation Sequencing (NGS) technologies, Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES), and long-read sequencing have become increasingly accessible. However, each method offers distinct advantages in terms of coverage, cost, data depth, and analytical capabilities. Selecting the most appropriate test according to the clinical or research need is critical, particularly in the context of complex genetic disorders and precision oncology applications. The table below provides a comparative overview of the key characteristics of the different genomic testing approaches available through our laboratory.

Our Genomic Testing Solutions:

 WESWGSLong-Read Sequencing
MethodNGS (Next-Generation Sequencing) – Short-Read SequencingNGS (Next-Generation Sequencing) – Short-Read SequencingThird-Generation Sequencing – Long-Read Sequencing
Coverage~20,000 GenesWhole GenomeWhole 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 CapabilitiesAnalysis of SNVs, InDels, CNVs, and mitochondrial DNA variantsAnalysis of SNVs, InDels, CNVs, and mitochondrial DNA variantsAnalysis of SNVs, InDels, CNVs, STRs, translocations, pseudogene regions, mitochondrial DNA variants, methylation, and epigenetic alterations
Key FeatureAnalysis of coding regions with variant classification (Pathogenic / VUS / Benign)Analysis of coding and non-coding regionsAnalysis of complex genomic regions, epigenetic alterations, and transcriptomic regions
Sample RequirementsEDTA Blood
Amniotic Fluid
CVS
Buccal Swab
EDTA Blood
Amniotic Fluid
CVS
Buccal Swab
EDTA Blood
Amniotic Fluid
CVS
Buccal Swab
Turnaround Time4–5 Weeks4–5 Weeks4–6 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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