Molecular Genetic Whole Exome Sequencing WES - NGS
Test Code
MOG15
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
NGS (Next-Generation Sequencing)
NGS (Next-Generation Sequencing) is the foundational technology for Whole Exome Sequencing (WES). WES is a powerful and high-throughput molecular diagnostic technique that involves sequencing the protein-coding regions of all genes in the human genome. While the human genome is vast, the exome (the collection of all exons) constitutes only about 1-2% of the genome but contains approximately 85% of known disease-causing mutations. For WES, DNA is extracted and then enriched for exonic regions. These enriched fragments are then massively sequenced in parallel using NGS platforms. The resulting sequence data is aligned to a reference genome, and sophisticated bioinformatics pipelines are used to identify genetic variants (SNPs, indels, copy number variations) within the exome. This comprehensive approach allows for the detection of known and novel pathogenic mutations across thousands of genes simultaneously, making it an invaluable tool for diagnosing a wide range of genetic disorders, especially when the clinical presentation is atypical or previously targeted gene testing has been inconclusive.
Sample Required
WB EDTA Whole Blood (WB) in EDTA Vacutainer
(A sample of whole blood collected in an EDTA vacutainer is required for this test. EDTA acts as an anticoagulant to preserve the blood sample for high-quality DNA extraction.)
Preparation
No specific preparation is typically required for the blood draw. * No Fasting Required: Fasting is not necessary for this blood sample collection. * No Special Timing: Blood can be drawn at any time ... Read more
Schedule Report
30 to 35 Days
Emergency Report
Yes
Frequently Asked Questions
No data available
Test Description
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.