Molecular Genetic Lynch Syndrome / HNPCC Gene Panel - NGS
Test Code
MOG30
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
NGS (Next-Generation Sequencing) / MLPA (Multiplex Ligation-dependent Probe Amplification)
For comprehensive Lynch Syndrome/HNPCC Gene Panel, a combination of molecular techniques is essential to detect the wide spectrum of mutations in the implicated genes:
* NGS (Next-Generation Sequencing): This is the primary method used to sequence the entire coding regions (exons) and critical intron-exon boundaries of the core mismatch repair (MMR) genes associated with Lynch Syndrome. These typically include:
* MLH1 (MutL homolog 1)
* MSH2 (MutS homolog 2)
* MSH6 (MutS homolog 6)
* PMS2 (PMS1 homolog 2, mismatch repair)
* EPCAM (Epithelial Cell Adhesion Molecule), which is upstream of MSH2 and can lead to MSH2 inactivation through large deletions.
NGS can efficiently detect point mutations, small insertions, and small deletions within these genes.
* MLPA (Multiplex Ligation-dependent Probe Amplification): This technique is crucial for detecting large genomic rearrangements (large deletions or duplications) within the MMR genes, which are missed by standard NGS sequencing for point mutations. Large deletions/duplications in MLH1, MSH2, MSH6, PMS2, and particularly deletions affecting EPCAM (leading to MSH2 inactivation), account for a significant percentage of pathogenic variants in Lynch Syndrome. Therefore, MLPA is an indispensable complementary method to NGS for a comprehensive panel.
This combined approach ensures maximum sensitivity and accuracy in identifying the full range of pathogenic mutations responsible for Lynch Syndrome.
Sample Required
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 this genetic test. * No Fasting Required: Fasting is not necessary for this blood sample collection. * No Special Timing: Blood can be drawn at any ti... Read more
Schedule Report
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.