Chromosome Analysis, Blood

Also known as Karyotyping, Blood

You need to provide

Blood

This test is for

Male, Female

Test Preparation

A duly filled Chromosome & FISH Analysis Requisition form (Annexure - CR/03) is mandatory.

Understanding Chromosome Analysis, Blood

What is Chromosome Analysis, Blood?

Chromosome analysis, also known as karyotyping, is done to determine the genetic cause behind the abnormalities in fetus (cognitive disabilities and retarted growth), multiple miscarriages, infertility, and cancer. Chromosomes are thread-like structures which constitute the DNA and genetic makeup of an individual. Humans have a total of 46 chromosomes present as 23 pairs. If you have an anomaly in the number, size or shape of your chromosomes, this can point to a genetic disease.

Your doctor may recommend this test if your baby has signs of a genetic disorder or if you've had difficulty getting pregnant or have had recurrent miscarriages. This test may also be useful if you have had been diagnosed or have symptoms of leukemia, lymphoma, or a certain type of anemia.

What is Chromosome Analysis, Blood used for?

The Chromosome Analysis, Blood test is done:

In case the pregnancy tests are abnormal
In case of signs of chromosome abnormality disorder
To detect chromosomal abnormality in a person or a specific abnormality in family members
In case a person has lymphoma or leukemia or myeloma or myelodysplasia or another cancer
In case there is suspicion of acquired chromosome abnormality

Answers to Patient Concerns & Frequently Asked Questions (FAQs) about Chromosome Analysis, Blood

Frequently Asked Questions about Chromosome Analysis, Blood

Q. What are some chromosomal disorders that may be detected by Chromosomal Analysis, Blood test?

Some chromosomal disorders that may be detected include Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, and Chronic myelogenous leukemia.

Q. How are chromosomal abnormalities interpreted?

The examples of chromosomal abnormalities include Trisomy, Monosomy, Deletions, Duplications, Translocations, and Genetic rearrangement. In trisomy, there is presence of an extra chromosome which means that instead of two, three chromosomes are present. The diseases which are associated with trisomy include Down syndrome, Patau syndrome, Edward syndrome, and Klienfelter syndrome. In monosomy, there is an absence of one of the chromosomes such as in Turner syndrome. In the case of deletions, there are missing pieces of chromosomes or genetic material. In the case of duplications, there is presence of extra genetic material which can be present on any chromosome. In the case of translocations, pieces of chromosomes break off and get reattached to chromosomes. In the case of genetic rearrangement, the genetic material is present on a chromosome, but it is not present in its normal location.

Q. What is Down's syndrome?

It is a genetic disorder in which extra genetic material from chromosome 21 gets transferred to the fetus. This transfer affects the development of the fetus leading to abnormal development both physically and mentally. The affected baby will have a small head and short neck, obliquely positioned eyes looking in an upward direction, large tongue coming out of the mouth, flat face, wide hands with short fingers, and lack of muscle tone.

Q. Is there any risk associated with the withdrawal of blood sample procedure?

As such there is no risk but in few cases, bruising, bleeding, and infection at the puncture site can be seen. In very few cases, there can be swelling of the vein after the blood is withdrawn.

Q. How is the blood sample taken?

The healthcare provider takes a blood sample from the arm. The site from where the blood is to be withdrawn is cleaned with a swab of rubbing alcohol. This is then followed by inserting a small needle which has a tube attached to it for collecting blood. Once the sufficient blood for analysis is withdrawn, the needle is removed. The site is then covered with a gauze pad.

Q. What is Trisomy 18?

It is also known as Edwards Syndrome which is caused by the development of an extra chromosome 18. Because of this, the normal pattern of development in the baby gets disturbed even before its birth. The effects caused by Trisomy 18 are very complicated as compared to Down syndrome. The effects are so severe that it can cause stillbirth (death at the time of birth) of the child.

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