Chromosome Analysis, Blood

Chromosomes are an integral part of the cells that contain thousands of genes made up of deoxyribonucleic acid (DNA). DNA is a molecule that contains all the genetic information that develops your unique physical traits.

There are about 37.2 trillion cells in the human body, and each cell has 23 pairs or 46 chromosomes. Any abnormality in the number of chromosomes, like a missing or extra pair, can cause genetic or chromosomal abnormalities. Here are some of the diseases that can happen due to genetic abnormalities:

• Genetic diseases, such as Down syndrome, Edwards Syndrome, etc. 
• Blood disorders, like anaemia 
• Cancers like adult non-Hodgkin lymphoma (NHL) and leukaemia 
• Lymphoma
• Myeloma and myelodysplasia syndrome (MDS)

A chromosome analysis blood test or karyotype test allows a closer look at the shape, size, and number of chromosomes in the cells. It is possible to detect chromosomal abnormalities with karyotyping. This test is mainly prescribed for babies during prenatal development. However, it is also useful for adults or children at risk of genetic abnormalities.

Some common symptoms that one might observe due to genetic abnormality are:

• Poor growth 
• Intellectual disability 
• Difficulty in learning 
• The irregular structure of the heart 
• Multiple miscarriages
• Physical defects in the brain and spine 
• Defective facial features
• Congenital deformities
• Abnormal pregnancy screening test results

Your healthcare provider can recommend a chromosome analysis test, also known as genetic testing or chromosomal karyotype analysis, if they detect these signs. Only after evaluation of the chromosomes, the medical practitioner can recommend effective treatment. Your doctor may also seek information about your family history and medical history to interpret the karyotype test results accurately.

The main objective of the chromosome analysis test is to closely inspect the chromosomes from the cells of your blood sample. Besides blood samples and skin tissues, amniotic fluid from the womb is also tested sometimes to deduce accurate conclusions. Chromosome analysis blood test determines the number of chromosomes in the cells.

It also distinguishes any irregularity in the structure of the genetic material. 
In most cases, the test is done via a standard venipuncture procedure. During this procedure, the lab technician draws blood from the vein in your arm by injecting a needle.

For prenatal diagnosis, amniotic fluid and chorionic villi amniocentesis may be collected via the following methods: 

• Amniocentesis 
• The chorionic villus sampling process

Your child may be at high risk of being born with a chromosomal abnormality if the parents have a family history of genetic disorders. Early diagnosis can help you find this out and take necessary precautions. For this, you require a reliable test provider. Apollo 24|7 offers the chromosome analysis blood test at an affordable cost.

Although there is no permanent cure for chromosomal abnormalities in most cases, there are some prescribed methods to make the patient’s condition better. These include:

• Occupational therapy 
• Physical therapy
• Genetic counselling 
• Cardiovascular medicines

Also, taking necessary precautions, like avoiding teratogen substances such as tobacco, alcohol, and recreational drugs, may help prevent birth defects. 
 

Medically reviewed by Dr. Soumya Bhattacharya, Haemotologist from Apollo Multispeciality Hospitals , Kolkata.