Karyotyping

Appointment

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Working Hour

Monday 8:00 - 18:00
Tuesday 8:00 - 18:00
Wednesday 8:00 - 18:00
Thursday 8:00 - 18:00
Friday 8:00 - 18:00
Saturday 8:00 - 18:00
Sunday 8:00 - 18:00

Karyotyping is a laboratory technique used to visualize and analyze the number, shape, and size of chromosomes in a sample of cells. This technique helps to identify chromosomal abnormalities such as deletions, inversions, duplications, and translocations.

Procedure

Sample Collection: A sample of cells is typically obtained from blood, bone marrow, amniotic fluid, or tissue.
Cell Culture: The cells are cultured in a lab to encourage them to grow and divide.
Mitotic Arrest: When cells are in the metaphase stage of cell division (where chromosomes are most condensed and easiest to view), they are arrested using a chemical agent, like colchicine.
Harvesting and Staining: Cells are then harvested, treated to swell the cell membranes, fixed onto slides, and stained to enhance the visibility of chromosome bands.
Microscopy: The stained chromosomes are viewed under a microscope, and photographs are taken for analysis.
Analysis: The photographs are analyzed, and the chromosomes are arranged by size and shape to create a karyogram (a visual representation of all the chromosomes in a cell).

Applications

Diagnosis of Genetic Disorders: Detect conditions like Down syndrome (trisomy 21), Turner syndrome, and Klinefelter syndrome.

Cancer Diagnosis and Prognosis: Identify chromosomal changes in cancer cells, which can help in diagnosis, prognosis, and treatment decisions.

Fertility Evaluations: Detect chromosomal causes of infertility or recurrent miscarriages

Prenatal Diagnosis: Detect chromosomal abnormalities in a fetus through tests like amniocentesis or chorionic villus sampling (CVS).

Advantages

Can visualize the entire chromosome set.

Detects large-scale chromosomal abnormalities.

Limitations

Limited resolution: Cannot detect very small genetic changes or point mutations. Requires cells in metaphase, so the process is time-consuming. Might not detect mosaic cases where chromosomal abnormalities are present in only a fraction of cells.

Conclusion

Karyotyping is a foundational technique in cytogenetics and has been instrumental in diagnosing and understanding a myriad of genetic conditions. However, with the advent of more advanced genomic technologies like microarrays and next-generation sequencing, karyotyping is often complemented by these methods for a more comprehensive genetic analysis.