Molecular Genetic Carrier Screening by Clinical Exome Sequencing CES - NGS
Test Code
MOG25
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
NGS (Next-Generation Sequencing) / Clinical Exome Sequencing (CES)
NGS (Next-Generation Sequencing) is the core technology for Clinical Exome Sequencing (CES)-based Carrier Screening. Unlike traditional carrier screening panels that target a limited number of common mutations or genes, CES leverages the power of NGS to sequence the protein-coding regions (exons) of a vast number of genes associated with a broad range of inherited disorders. This comprehensive approach allows for the simultaneous detection of thousands of known pathogenic variants, as well as novel or rare pathogenic variants, across many genes. The DNA from the couple is sequenced, and bioinformatics pipelines are used to identify disease-causing mutations. The data is then analyzed to determine if either individual carries a mutation for a recessive or X-linked disorder, or if both partners carry a mutation for the same recessive disorder. This allows for a significantly expanded and highly sensitive carrier screening, greatly increasing the detection rate for at-risk couples.
Sample Required
Whole Blood (WB) in EDTA Vacutainer for Both Partners (Couple)
(A sample of whole blood collected in an EDTA vacutainer is required for each individual (both partners) undergoing screening. EDTA acts as an anticoagulant to preserve the blood sample for high-quality DNA extraction.)
Preparation
No specific physical 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 ... Read more
Schedule Report
30 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.