Karyotype Analysis - Genetic Testing For The 21st Century

Karyotype Analysis – Genetic Testing For The 21st Century

By: - Science - August 24, 2011
karyotype analysis %E2%80%93 genetic testing for the 21st century

To define karyotype analysis is to define modern medicine’s miraculous ability to accurately diagnose chromosomal abnormalities that just a generation ago remained invisible and mysterious. Advancements in genetic testing have resulted in more information being available to the general public than ever before, and more advanced treatments to treat those illnesses that have become more prevalent or at least more noticeable with the advent of advanced diagnostic testing. In seeking to define karyotype testing it is useful to dissect the word “karyotype” itself. “Karyo-” refers to the nucleus of the cell, where genetic information is stored. The suffix “-type” refers to printing. Indeed, a karyotype analysis involves the printing of the chromosomes contained in a cell’s nucleus. Karyotype analysis has replaced other forms of genetic analysis, as it provides an actual photograph of an individual’s chromosomes, allowing doctors to have a much great ability to diagnose and treat their patients in a manner that is consistent with their personal illness, rather than relying upon a standard care that might not be suited to an individual. To define karytoptye is then a manner in which to provide personal care to patients that did not exist 25 years ago.

Karytyope analysis, which takes place in a genetics laboratory, involves a sample from the blood, placenta or amniotic fluid. White blood cells that are in the active division process are cultured and then a chemical is used to stop cell division at a particular stage where the chromosomes are especially compact. Chemical means are used to explode the cell itself, leaving the chromosomes exposed and visible. They are then stained and viewed under a microscope. Chromosomes will then be counted, as a normal individual possesses 46 while someone with, for example, Down Syndrome has 47 and other conditions may involve missing or translocated chromosomes. Light and dark bands will be visible, which distinguish the chromosomes from one another. The karyotype analysis will then analyze the chromosomes for abnormalities in their structure. The ability to analyze many details of chromosomal structure is part of what defines a karyotype. It is more thorough than some of the other forms of genetic analysis available, though there are also newer innovations that allow for even more detailed chromosomal analysis. Karyotype testing is presently used to test for Down Syndrome, Turner Syndrome, Klinefelter Syndrome, cri du chat syndrome, Angelman Syndrome, Prader-Willi Syndrome.

This tried and true method of testing for chromosomal abnormalities allows families, parents and friends to understand the diagnosis and make plans for the future of their family. It also often gives a sense of relief that comes with finally having a diagnosis instead of waiting and worrying about something that you think is wrong, but don’t know for sure.