Karyotyping - Chromosomal Analysis

Karyotyping is a genetic test used to study an individual’s chromosome make-up. Chromosomes are separated from cells, stained, and studied under a microscope to determine the number and their structure.

A karyotype is a snapshot of the genome. A karyotype can be used to detect extra or missing chromosomes, chromosomal rearrangements, or chromosomal breaks. Any cell that contains a nucleus can be used to make a karyotype. For clinical testing, Karyotyping is performed using Giemsa-banding technique also known as G-banding.

Karyotyping is the oldest genetic test available for detection of chromosomal abnormalities. Despite the emergence of newer technologies such as Fluorescence In Situ Hybridization (FISH) or Chromosomal Microarray Analysis (CMA), Karyotyping remains a common first step in the genetic diagnostic protocol for most disorders.

Besides the identification of aneuploidies (extra or missing chromosome) or chromosomal rearrangements, Karyotyping has an important role in detecting balanced translocations (exchange of parts of chromosomes without a loss of DNA). It is highly useful in pediatric disorders like Down’s Syndrome, infertility, repeated pregnancy loss and malignancies (Cancer).

Karyotyping is a very sensitive technique as it requires growing of cell culture in order to obtain metaphases where the chromosomes can be viewed clearly. The technique requires careful handling of the samples for growing good culture, proper banding & staining and slide preparation. The analysis of the chromosomes using advanced software is further dependent on the skill and experience of the scientists.

At LABASSURE – AGILE, we have perfected the art of karyotyping through years of experience across a wide range of sample types, disorders and clinical requirements.

Karyotyping tests are available through LABASSURE – an exclusive DNA and Genetic Diagnostics brand from Advanced Genomics Institute and Laboratory Medicine (AGILE).