Molecular Genetic Beta Thalassemia Minor / Major 12 Regions - RT-PCR
Test Code
MOG42
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
RT-PCR (Real-Time Polymerase Chain Reaction) / Allele-Specific PCR / Other PCR-based methods (e.g., Reverse Dot Blot, High-Resolution Melt Analysis, Direct Sequencing) followed by fragment analysis or sequencing, depending on the specific mutations targeted.
For the detection of Beta Thalassemia mutations, the term "RT-PCR" as used in the prompt likely refers to Real-Time PCR (a quantitative DNA-based PCR technique for genotyping) or a broader category of PCR-based methods rather than RNA-based Reverse Transcription PCR. The most common molecular methods used to screen for Beta Thalassemia mutations in 12 regions include:
* Allele-Specific PCR (AS-PCR): Uses primers designed to specifically amplify DNA only if a particular mutation is present, or to differentiate between wild-type and mutant alleles. This is very common for detecting known common mutations.
* Reverse Dot Blot Hybridization: This method can simultaneously screen for multiple known mutations (often 12 or more) on a single strip by hybridizing PCR-amplified DNA with immobilized probes specific for different mutations.
* High-Resolution Melt Analysis (HRM): A post-PCR technique that detects genetic variations based on characteristic DNA melting curves.
* DNA Sequencing (e.g., Sanger Sequencing or targeted NGS): For confirming identified mutations, or for detecting rarer or novel mutations in the beta-globin gene if the initial screening panels are negative but clinical suspicion remains high.
The methodology aims to identify specific point mutations or small deletions/insertions within the beta-globin gene (HBB gene), particularly focusing on the 12 most common mutations in the relevant population, to diagnose Beta Thalassemia minor (carrier state) or major (severe form).
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 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 time of day.... Read more
Schedule Report
5 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.
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