Molecular Genetic Comprehensive Alpha & Beta Thalassemia Gene Panel - NGS
Test Code
MOG28
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) / Fragment Analysis / Gap-PCR
A comprehensive panel for both Alpha and Beta Thalassemia requires a multi-pronged molecular approach due to the diverse mutational spectrum of these disorders. While NGS (Next-Generation Sequencing) forms the backbone for detecting point mutations and small indels, other specialized techniques are crucial for identifying common large deletions and specific trinucleotide repeats:
* NGS (Next-Generation Sequencing): This is the primary method for sequencing the entire coding regions and critical intronic/flanking sequences of both alpha-globin genes (HBA1, HBA2) and the beta-globin gene (HBB). NGS is excellent for identifying point mutations (e.g., common Beta Thalassemia mutations like IVS1-5, Codon 41/42, Codon 17, etc.) and small insertions/deletions. It can also provide information on gene dosage for large deletions through read depth analysis, though dedicated methods are often preferred for this.
* MLPA (Multiplex Ligation-dependent Probe Amplification): This is essential for detecting large deletions and duplications in the alpha-globin gene cluster (e.g., --SEA, -alpha3.7, -alpha4.2 deletions, alpha alpha alpha anti-3.7 duplications), which account for the vast majority of alpha thalassemia cases. MLPA directly quantifies gene copy numbers, providing a robust and precise method. While less common, MLPA can also be used for specific large deletions in the beta-globin cluster.
* Fragment Analysis / Gap-PCR: These PCR-based methods are specifically designed to detect common large deletions in the alpha-globin gene cluster by amplifying across the deletion breakpoints (Gap-PCR) or analyzing fragment sizes (Fragment Analysis). They serve as robust and often complementary methods to MLPA for these specific common deletions. For Beta Thalassemia, specific PCR-based assays (like ARMS-PCR or RFLP) might be used for common regional mutations.
This combined approach ensures maximum diagnostic sensitivity and specificity, covering the wide range of known pathogenic variants in both alpha and beta 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
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.