Comprehensive Beta Globinopathy (HBB Gene mutation and deletion)-TRIO With MCC

Comprehensive Beta Globinopathy (HBB Gene Mutation and Deletion) – TRIO with MCC is an advanced genetic test that analyzes the HBB (Beta-Globin) gene in the affected individual and both biological parents (Trio analysis). The test detects disease-causing mutations and deletions associated with Beta-Thalassemia and other Hemoglobinopathies, while MCC (Maternal Cell Contamination) ensures the accuracy of prenatal samples.

Test Highlights

• Detects HBB gene mutations and deletions
• Trio analysis (Patient + Mother + Father)
• Includes Maternal Cell Contamination (MCC) analysis
• High-accuracy genetic sequencing
• Supports carrier detection and prenatal diagnosis
• Comprehensive interpretation by clinical genetic experts

Recommended For

• Couples with a family history of Beta-Thalassemia
• Individuals suspected of Beta-Globin disorders
• Carrier screening before marriage or pregnancy
• Prenatal diagnosis in high-risk pregnancies
• Families with previously affected children
• Genetic counseling and reproductive planning

Conditions Detected

• Beta-Thalassemia Major
• Beta-Thalassemia Intermedia
• Beta-Thalassemia Minor (Carrier)
• Hemoglobin E/Beta-Thalassemia
• Other HBB-related hemoglobin disorders

Sample Requirement

• Peripheral Blood (EDTA) from Patient, Mother & Father
• Prenatal sample (CVS/Amniotic Fluid), if applicable
• Additional maternal blood sample required for MCC analysis

Benefits

• Accurate identification of disease-causing variants
• Confirms carrier or affected status
• Helps assess recurrence risk in future pregnancies
• Supports informed reproductive decisions
• Enables early diagnosis and personalized clinical management

Turnaround Time

Approximately 3–4 weeks

Note: Genetic test results should always be interpreted by a qualified clinical geneticist or healthcare professional along with clinical findings and family history.