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Whole Exome Sequencing (WES)
Whole Exome Sequencing (WES) is a highly precise genomic technique that utilizes Next-Generation Sequencing (NGS) to simultaneously analyze all protein-coding regions (the exome) of the human genome. Although the exome represents only about 1–2% of the total genome, it contains approximately 85% of all known disease-causing genetic mutations. This makes WES an extraordinarily cost-effective and clinically impactful solution for diagnosing rare and complex genetic disorders.
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COVID-19 (SARS-CoV-2) Genome Sequencing
COVID-19 Genome Sequencing utilizes Next-Generation Sequencing (NGS) platforms to map the entire RNA genome of the SARS-CoV-2 virus. This high-throughput analysis represents the gold standard for tracking viral evolution, identifying emerging lineages (such as Alpha, Delta, Omicron, and their subvariants), and assessing potential immune evasion or altered transmissibility.
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Clinical Exome Sequencing (CES)
Clinical Exome Sequencing (CES) is a targeted, high-depth Next-Generation Sequencing (NGS) analysis focused specifically on gene regions with well-established disease associations in medical literature (OMIM/phenotype-associated genes). While Whole Exome Sequencing (WES) captures all protein-coding regions, CES concentrates on clinical relevance, offering higher coverage depth, faster turnaround times, and cost-effective diagnostic yield for routine clinical workflows.
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Amplicon Sequencing and Analysis
Amplicon Sequencing is a targeted Next-Generation Sequencing (NGS) approach that utilizes PCR primers to amplify specific genomic regions (such as 16S rRNA, ITS, 18S, or targeted gene panels) for ultra-deep sequencing. Compared to whole-genome or exome approaches, focusing on specific sequences of interest yields exceptionally high coverage depth, high sensitivity, and a cost-effective workflow.
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Industry news, analysis and expert opinions.
04.09.2026
Genetic Testing in Pregnancy Planning: Is a Future Free of Inherited Disease Possible?
Preparing for parenthood is an exciting journey. However, for couples with a known family history of a genetic condition, consanguinity, or a previous pregnancy affected by an inherited disorder, the process can bring significant worry.
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04.09.2026
Genetic Diagnosis in Inherited Metabolic Disorders: Why Early Detection Saves Lives
Inborn errors of metabolism (IEM) are a group of genetic conditions caused by enzyme deficiencies that disrupt normal cellular biochemistry—preventing the body from converting nutrients into energy or removing toxic metabolic byproducts. While individually rare, collectively they represent a major cause of pediatric morbidity and mortality.
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04.09.2026
Genetic Testing in Neurological Disorders: The Power of Neurogenetics
Neurology features some of the highest levels of clinical heterogeneity in medicine. Phenotypically similar seizures, muscle weakness, or movement disorders can stem from entirely different genetic mutations. In this complex landscape, Neurogenetic NG-Panels have become an indispensable tool for neurologists and pediatric neurologists.
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