Catholic University Catholic Hematology Hospital

What is chromosome analysis?

Chromosome analysis, also known as karyotyping, is a test that helps doctors look for changes in chromosomes that could explain certain medical conditions or cancers. Changes in your chromosomes can affect your genes, leading to a variety of blood-related cancers. This test examines chromosomes in your cells to see if there are any unusual numbers or shapes that could indicate health issues.

How do we perform a chromosome analysis?

This test can be done on any living cells for inherited conditions. When it comes to blood cancers or solid tumors that develop later in life, the test focuses on the abnormal cells found in blood, bone marrow, or the tumor tissue.

Conventional Karyotype

• This is the traditional method where cells – usually from blood or bone marrow – are encouraged to divide.
• The cells are then stopped mid-division, treated to make the chromosomes more visible, fixed, and placed on a slide.
• The chromosomes can be stained and viewed under a microscope.

Fluorescence In Situ Hybridization (FISH)

• FISH uses special fluorescent dyes that only attach to specific parts of chromosomes.
• It can spot even tiny changes that a regular microscope might miss.
• This test can be done on cells that aren't dividing, allowing doctors to identify and count abnormal cells.

How do we use the results?

Chromosome analysis can be key in diagnosing various blood disorders. For instance, chronic myeloid leukemia is often identified by a specific chromosome change. The results can also help predict how effective certain treatments might be.

Prognostic Groups in Acute Myeloid Leukemia Based on Chromosome Changes