Karyotyping is a cytogenetic test to analyze numerical and structural features of the chromosomes that present in the species. The detected chromosomes are subsequently grouped according to their size, centromere position, banding pattern, and any potential aberrations will be visualized under the microscope.

Karyotypes are performed for observation of genetic changes in chromosome number associated with aneuploid conditions, such as trisomy or monosomy. More detailed analysis of karyotypes can also reveal structural changes, including chromosomal deletions, duplications, translocations, or inversions.

A normal test result of karyotyping will show 46 chromosomes, and two of these chromosomes are sex chromosomes, which determine the sex of the tested person. Female will have two X chromosomes, while male will have one X chromosome and one Y chromosome. Abnormalities that appear in a test sample could be the result of any number of genetic syndromes or conditions.

The application of karyotype is important to help detect a variety of chromosomal abnormalities and provide sources of diagnostic information for specific birth defects, genetic disorders, and even cancers.

Testing scope :

– Aneuploidy (e.g. Trisomy, Monosomy)
– Deletions
– Duplications
– Translocations (including balanced and unbalanced translocation)
– Inversions
– Polyploidy (e.g. Haploid, Triploid)