Cytogenetics Testing

It is an important part of genetics that includes the study of chromosomes and their structure, function, and abnormalities. It includes testing samples of blood, tissue, or bone marrow in a laboratory to find out if there are any changes in the structure of chromosomes. This change in a certain chromosome can be a sign of any genetic disease or condition.

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Application of Cytogenetics

The most important application of cytogenetics is to identify the cause of congenital defects or any developmental disorders in children. This further helps the affected children to get the proper counselling for the right management and prognosis.

Cytogenetics is highly applicable for the diagnosis of hematological disorders such as Blood Cancer –acute and chronic myeloid leukemia.

It is also used to confirm the diagnosis of solid organ malignancies such as Carcinomas – prostate cancer, breast cancer and colorectal cancer. In the case of sarcomas – osteosarcoma as well as lymphomas- Non-Hodgkin’s Lymphoma.

It is also used for prenatal testing in a high-risk pregnancy. It is performed on samples obtained in utero via amniocentesis to find out any chromosomal abnormalities in the fetus, for example, trisomy 21 in Down syndrome.

Types of Cytogenetic:

There are three main types of cytogenetic testing

Routine Karyotyping is a genetic test that helps to find the abnormalities in chromosomes that cause genetic diseases or disorders. It is used to identify blood disorders like blood cancer, lymphatic system disorders, birth defects, and genetic disorders.

Fluorescent in situ hybridization – This FISH test locates the specific DNA sequence on a chromosome. A fluorescent probe detects the DNA Sequence. It is helpful in the diagnosis of Prader-Willi Syndrome, chronic myelogenous leukemia, acute lymphoblastic leukemia and Down syndrome.

Comparative genomic hybridization (CGH) and array comparative genomic hybridization (ACGH) – CGH is a test that allows the detection of chromosomal copy number changes without the need for cell culturing. Acgh is used to detect changes in chromosomal copy numbers on a genome-wide and high-resolution scale.

How is cytogenetic testing performed?

This test takes place with the help of a small sample of blood, which is taken during normal blood flow. Doctors may also use bone marrow samples for this test. The TAT (turnaround time) for routine cytogenetic tests is between 3 to 14 days.

This process, facilitated by specialized laboratories and skilled technicians, plays a pivotal role in diagnosing and managing various health conditions, offering patients and healthcare providers valuable insights into genetic health and potential treatment strategies.

What is the price of cytogenetic testing?

Cytogenetic testing, essential for diagnosing genetic disorders, ranges from $375 to $450, varying with the specific test needed. This examination, crucial for identifying chromosomal abnormalities associated with conditions like cancer or birth defects, offers invaluable insights into patient health.

The cost reflects the complexity and precision required in analyzing chromosomes, genes, or proteins, ensuring accurate diagnoses and informed medical decisions. Despite the expense, the benefits of early detection and tailored treatment plans far outweigh the financial considerations, offering hope and improved outcomes for individuals and families grappling with genetic conditions.