What is Karyotyping & What Is Its Purpose?
The procedure known as Karyotyping is an investigation undertaken by a Clinical Geneticist to examine the chromosomes of an individual patient. The purpose of examining the chromosomes is to determine whether any structural issues or abnormalities exist within them.
You’ll find chromosomes within the nucleus of every cell of the body. Chromosomes represent genetic material passed down from parent to child. Comprised mainly of Deoxyribonucleic Acid (DNA), they’re the building blocks of the humankind and determine the unique manner in which every person develops their physical and genetic characteristics.
Cell Division
As cells divide, it’s necessary to pass on a full set of genetic instructions to each newly-formed cell. Cells that aren’t going through the process of division feature chromosomes that are spread out, whereas those that are engaged in active division will have their chromosomes lined up in pairs. Karyotyping examines these cells engaged upon division. During the metaphase stage of cell division, the chromosomes become distinguishable as they align in the dividing cell and this represents the optimum opportunity to examine chromosomes. .
The process helps to determine whether there are any altered or missing regions of chromosomes and it’s achieved by examining their size and appearance by microscopic examination by very experienced, highly skilled technicians. Should they be incorrectly-arranged or malformed, this can be an important clue towards a genetic condition.
Identifying Genetic Conditions
A wide range of different genetic conditions can be picked up using karyotyping, , Turner Syndrome and Klinefelter Syndrome being amongst the most common. Nowadays chromosomes are most often tested by “arrays”, a technique which compares the DNA of an individual patient to that of a pool of chromosomally “normal” cases. It is frequent now for babies can also be tested in this way in utero to diagnose specific chromosomal abnormalities and chromosomal variants which may contribute to serious congenital defects.
Sometimes couples who are having problems conceiving a child can benefit from Karyotyping as it can be used to identify a chromosomal cause for the infertility.
Giving You The Important Answers You Need
Karyotyping is just one of the services we offer at Genetics.ie, along with carrier testing, diagnostic genetic testing, predictive genetic testing and more. If you’re in need of important answers to family health questions, then we can help you get them while supporting you with expert advice and insightful diagnostic procedures along the way.
To discover more about this or the full range of genetic testing services we offer, visit us today at www.genetics.ie. Alternatively, to schedule an appointment, just call us on 01 206 4329 or enter your details into our contact form and we’ll reply as quickly as we can.