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Cytogenetics testing is a specialised branch of pathology that studies chromosomes in cells to detect genetic abnormalities, chromosomal disorders, and structural changes linked to genetic diseases.

Cytogenetics tests are used to diagnose hereditary conditions, chromosomal abnormalities like Down syndrome, certain cancers, infertility issues, and developmental delays by analysing chromosome structure and number.

The test involves collecting a sample (such as blood, bone marrow, amniotic fluid, or tissue), culturing cells, staining chromosomes, and analysing them under a microscope to identify abnormalities in their structure or number.

Cytogenetics testing can detect conditions such as Down syndrome, Turner syndrome, Klinefelter syndrome, certain leukemias, and other genetic disorders caused by changes in chromosome structure or count.

The testing itself involves routine sample collection such as a blood draw or tissue sample, which may cause minor discomfort, but the laboratory analysis is painless and done off-site.

Turnaround time for cytogenetics tests can vary from a few days to several weeks, depending on the type of sample, the complexity of the analysis, and the specific test requested.

Preparation depends on the type of sample and test — your healthcare provider or laboratory will give specific instructions, which may include fasting or avoiding certain medications before sample collection.

Yes — cytogenetics testing is highly accurate in detecting chromosomal abnormalities when performed by trained specialists and properly processed in accredited laboratories.

Results are reviewed by a trained cytogeneticist or pathologist who examines the chromosomes and prepares a report explaining any abnormalities, clinical significance, and recommended follow-up.

Yes — cytogenetics is commonly used in prenatal diagnosis to assess chromosomal disorders such as trisomies and structural abnormalities in developing fetuses using samples like amniotic fluid or chorionic villus.