Molecular Genetic Alpha Thalassemia Gene Mutation Analysis - NGS
Test Code
MOG27
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 Alpha Thalassemia Gene Mutation Analysis, a combination of technologies is often employed due to the diverse nature of mutations:
* NGS (Next-Generation Sequencing): This is the primary method for detecting point mutations and small insertions/deletions within the alpha-globin genes (HBA1 and HBA2). NGS provides high-throughput sequencing of the entire coding regions and critical flanking sequences, allowing for the identification of less common or novel variants that are not large deletions.
* MLPA (Multiplex Ligation-dependent Probe Amplification): This technique is crucial and often indispensable for alpha thalassemia diagnosis. MLPA is specifically designed to detect copy number variations (CNVs), particularly large deletions and duplications, which account for the vast majority of alpha thalassemia cases (e.g., --SEA, -alpha3.7, -alpha4.2 deletions, and alpha alpha alpha anti-3.7 duplications). While NGS can sometimes infer large deletions from reduced read depth, MLPA provides a more direct and robust method for quantifying gene copy numbers and identifying specific common deletion breakpoints.
Therefore, a comprehensive alpha thalassemia genetic analysis panel typically uses MLPA for common large deletions/duplications and NGS for detecting point mutations, small indels, and less common variants in the alpha-globin gene cluster. This combined approach ensures the highest diagnostic yield given the heterogeneous mutational spectrum of alpha thalassemia.
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
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.