Alpha thalassemia (HBA1 & HBA2) deletion/duplication analysis_ONCO

Alpha Thalassemia (HBA1 & HBA2) Deletion/Duplication Analysis with MCC

Test Overview

Alpha Thalassemia is an inherited blood disorder caused by deletions or mutations in the HBA1 and HBA2 genes, which are responsible for alpha-globin production. This advanced molecular test detects deletions and duplications associated with Alpha Thalassemia and includes Maternal Cell Contamination (MCC) analysis to ensure accurate prenatal sample interpretation.

Why This Test is Done

• Detect Alpha Thalassemia carrier status
• Confirm suspected Alpha Thalassemia disease
• Prenatal diagnosis in high-risk pregnancies
• Identify gene deletions/duplications in HBA1 & HBA2
• Improve accuracy of fetal sample testing using MCC analysis

Symptoms & Conditions Evaluated

• Chronic anemia
• Fatigue and weakness
• Microcytic hypochromic anemia
• Family history of thalassemia
• Hydrops fetalis risk assessment
• Genetic counseling support

Test Method

• Molecular Genetic Analysis
• Deletion/Duplication Analysis
• MCC (Maternal Cell Contamination) Assessment

Sample Required

• EDTA Blood / Prenatal Sample (as advised)

Reporting Time

• Usually 10–14 working days

Benefits of the Test

• High sensitivity genetic detection
• Accurate prenatal interpretation
• Early diagnosis and carrier identification
• Supports reproductive and genetic counseling decisions

Recommended For

• Couples planning pregnancy
• Individuals with unexplained anemia
• Families with thalassemia history
• Prenatal screening in high-risk pregnancies

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