Amniotic FluidCVS/Peripheral venous blood/Dried Blood Spot
Beta Thalassemia (HBB) Deletion/Duplication Analysis – ONCO
Test Overview
Beta Thalassemia (HBB) Deletion/Duplication Analysis is a specialized genetic test used to identify large deletions or duplications in the HBB gene associated with Beta Thalassemia and related hemoglobin disorders. This test helps in detecting structural genetic variations that may not be identified through routine sequencing methods.
The analysis supports accurate diagnosis, carrier screening, prenatal risk assessment, and clinical management of hereditary blood disorders.
Why This Test is Recommended
- Evaluation of suspected Beta Thalassemia cases
- Carrier screening for individuals with family history
- Prenatal and preconception genetic assessment
- Investigation of unexplained anemia or abnormal hemoglobin profiles
- Confirmation of HBB gene deletions/duplications
Associated Conditions
- Beta Thalassemia Major
- Beta Thalassemia Intermedia
- Beta Thalassemia Trait
- Hemoglobinopathies related to HBB gene abnormalities
Sample Required
- Peripheral Blood / EDTA Blood
Methodology
- MLPA / NGS-based Deletion-Duplication Analysis
Turnaround Time
Key Features
- Detects large deletions and duplications in HBB gene
- High analytical sensitivity and specificity
- Useful when routine mutation analysis is negative
- Supports genetic counseling and family planning
- Advanced molecular diagnostic approach
Who Should Consider This Test?
- Individuals with chronic anemia
- Couples planning pregnancy
- Patients with abnormal Hb electrophoresis findings
- Families with known thalassemia history
- Individuals requiring comprehensive HBB gene evaluation
Disclaimer
This test is intended for clinical diagnostic purposes and should be interpreted alongside clinical findings and genetic counseling.
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