Beta thalassemia (HBB) deletion/duplication analysis With MCC

Beta Thalassemia (HBB) Deletion/Duplication Analysis with MCC

Test Name: Beta Thalassemia (HBB) Deletion/Duplication Analysis with MCC

Sample Type: Peripheral Blood

Purpose of the Test:
This test is designed to detect large deletions or duplications in the HBB (Beta-Globin) gene, which are associated with Beta Thalassemia and related hemoglobin disorders. The addition of MCC (Maternal Cell Contamination) analysis helps ensure the accuracy of prenatal or fetal genetic testing by identifying the presence of maternal DNA contamination in the sample.

Why is this Test Recommended?

• Confirmation of suspected Beta Thalassemia.
• Carrier screening in individuals with a family history of thalassemia.
• Prenatal diagnosis in at-risk pregnancies.
• Evaluation of unexplained microcytic anemia.
• Genetic counseling and family planning.

What Does the Test Detect?

• Large deletions in the HBB gene.
• Large duplications affecting the HBB gene region.
• Genetic variations associated with Beta Thalassemia.
• Maternal cell contamination (MCC) in prenatal samples.

Clinical Significance:
Beta Thalassemia is an inherited blood disorder characterized by reduced or absent production of beta-globin chains, leading to anemia of varying severity. Accurate identification of HBB gene abnormalities helps in diagnosis, prognosis, treatment planning, and reproductive decision-making.

Methodology:

• MLPA (Multiplex Ligation-dependent Probe Amplification) / NGS-based Copy Number Analysis
• Maternal Cell Contamination (MCC) Analysis

Turnaround Time: As per laboratory protocol.

Preparation Required: No special preparation is required.

Recommended For:

• Individuals with suspected Beta Thalassemia.
• Couples planning pregnancy.
• Families with a history of hemoglobinopathies.
• Prenatal diagnostic evaluations.