What is the Chromosomal Breakage Analysis Test?

The Chromosomal Breakage Analysis Test is a specialized genetic laboratory test that examines chromosomes for increased susceptibility to breakage after exposure to specific DNA-damaging agents. It is widely used to diagnose Fanconi Anemia and other rare chromosomal instability syndromes. The test helps identify inherited defects in DNA repair mechanisms that may lead to bone marrow failure, developmental abnormalities, infertility, and an increased risk of certain cancers.

Who should take this test?

• Patients with suspected Fanconi Anemia.
• Children with congenital abnormalities and bone marrow failure.
• Individuals with unexplained low blood cell counts (pancytopenia).
• Patients with a family history of chromosomal instability disorders.
• Individuals requiring evaluation before bone marrow transplantation.
• Doctor-advised genetic evaluation for inherited DNA repair disorders.

Preparation & Test Process

Understanding Your Results

Positive findings indicate increased chromosomal breakage, suggesting an inherited chromosomal instability syndrome such as Fanconi Anemia.

Negative findings suggest no abnormal increase in chromosomal breakage, although additional genetic testing may sometimes be recommended.

Results should always be interpreted by a clinical geneticist or hematologist together with medical history, physical examination, and other genetic or hematological investigations.

FAQs – Chromosomal Breakage Analysis Test