Beta Thalassemia HBB gene sequencing With MCC

Beta Thalassemia (HBB) Gene Sequencing with MCC

Beta Thalassemia (HBB) Gene Sequencing with MCC is a comprehensive genetic test that analyzes the HBB (Hemoglobin Beta) gene to identify disease-causing variants associated with Beta Thalassemia. The test includes Maternal Cell Contamination (MCC) analysis, ensuring the accuracy of prenatal samples by detecting any maternal DNA contamination.

Test Purpose

• Detects mutations in the HBB gene responsible for Beta Thalassemia.
• Confirms diagnosis in individuals with suspected Beta Thalassemia.
• Identifies carriers for family planning and reproductive counseling.
• Supports prenatal diagnosis with MCC validation.
• Helps assess the risk of passing the condition to future generations.

Who Should Consider This Test?

• Individuals with unexplained anemia or abnormal hemoglobin results.
• Couples planning pregnancy with a family history of Beta Thalassemia.
• Partners of known Beta Thalassemia carriers.
• Pregnant women undergoing prenatal genetic testing.
• Families seeking genetic counseling.

Sample Required

• Prenatal Samples: Chorionic Villus Sampling (CVS) or Amniotic Fluid
• Parental Samples (for MCC): Peripheral Blood

Test Method

• Next-Generation Sequencing (NGS) / Sanger Sequencing
• Maternal Cell Contamination (MCC) Analysis

Benefits

• High-accuracy detection of HBB gene variants.
• Confirms carrier and affected status.
• Improves reliability of prenatal genetic testing through MCC analysis.
• Enables early diagnosis and informed clinical management.
• Supports personalized genetic counseling.

Conditions Detected

• Beta Thalassemia Major
• Beta Thalassemia Intermedia
• Beta Thalassemia Minor (Carrier Status)
• Other pathogenic HBB gene variants

Turnaround Time

Approximately 2–4 weeks (may vary depending on laboratory protocols).

Why Choose This Test?

Accurate identification of HBB gene mutations combined with Maternal Cell Contamination (MCC) testing provides dependable prenatal genetic results, helping families make informed healthcare and pregnancy decisions.