Karyotyping by G-Banding, Peripheral Blood

Karyotyping, also known as chromosomal analysis, is a cytogenetic technique used to examine the number and structure of chromosomes in order to detect genetic or chromosomal abnormalities. Chromosomes are tiny thread-like structures inside each cell. They contain genetic blueprints (that shape our traits and characteristics). Each person typically has 46 chromosomes, arranged in 23 pairs, and these chromosomes need to be in the correct number and structure for proper health. Any change in the number or structure of an individual’s chromosomes can result in chromosome abnormalities. These abnormalities can lead to various health problems, including developmental delays, physical disabilities, or genetic disorders like Down syndrome, Turner syndrome, and Klinefelter syndrome.

The Karyotyping by G-Banding, Peripheral Blood determines the size, shape, and number of chromosomes in a blood  sample. In this technique, chromosomes are stained using a dye, producing characteristic dark and light bands that can be easily identified under a microscope. This process allows for the detection of chromosomal abnormalities such as aneuploidy (abnormal number of chromosomes), structural alterations like translocations, inversions, deletions, and duplications, which may contribute to genetic disorders.

The Karyotyping by G-Banding, Peripheral Blood test is performed when there is a concern about a genetic disorder or chromosomal abnormality. It is often recommended for individuals with unexplained developmental delays, intellectual disabilities, or birth defects. The test is also valuable for couples facing recurrent miscarriages or infertility, as sometimes genetic factors may contribute to these issues. Additionally, Karyotyping by G-Banding, Peripheral Blood can identify chromosomal abnormalities associated with conditions such as Down syndrome, Turner syndrome, or Klinefelter syndrome. It is commonly used in prenatal screenings for pregnancies at high risk of chromosomal disorders. Lastly, for those with a family history of genetic conditions, the Karyotyping by G-Banding, Peripheral Blood test can provide insight into the potential for passing on chromosomal abnormalities to future children.

For the Karyotyping by G-Banding, Peripheral Blood, a duly filled Chromosome & FISH Analysis Requisition form (Annexure - CR/03) is mandatory. This form must be completed prior to the sample collection, and it helps ensure that all necessary patient information is provided for accurate testing and analysis.

Lab test results may vary across different laboratories. Abnormal test results require an expert interpretation. Therefore, never try to self-medicate at home based solely on these results, and always consult a doctor for proper understanding of the test results. 

Note:

• A normal karyotyping result does not necessarily rule out the potential of a genetic disease that is not amenable to karyotyping. In these situations, confirmation using additional techniques is required.
• Cell growth may be impacted in some circumstances when there is a problem with sample integrity (e.g. clotted/ haemolysed samples); a second sample may be needed in certain circumstances.

Please note: This is an outsourced test. The sample for this test is collected by TATA 1MG and processed at a NABL accredited partnered lab.