Karyotyping by G-Banding Peripheral Blood in New Delhi

Also known as Karyotyping, Blood, Chromosome Analysis, G-Banding

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 Karyotyping by G-Banding Peripheral Blood in New Delhi

What is Karyotyping by G-Banding Peripheral Blood in New Delhi?

Karyotyping by G-Banding Peripheral Blood, also known as chromosome analysis. Chromosomes are thread-like structures that constitute the DNA and genetic makeup of an individual. Humans have a total of 46 chromosomes present as 23 pairs (one each from the mother or father). If there is an anomaly in the number, size, or shape of chromosomes, this can point to a genetic disease. Karyotyping by G-Banding Peripheral Blood is done to determine the behind any genetic abnormalities in the fetus (developing baby), the reasons for multiple miscarriages, infertility, etc.

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. It may also be recommended if there are abnormal results from one or more pregnancy screening tests or if there is a family history of a known chromosomal abnormality. This test may also be useful if you have been diagnosed or have symptoms of leukemia, lymphoma, or a certain type of anemia not responding to therapy.

Note:

A normal karyotyping result does not necessarily rule out the potential of a genetic disease that is not amenable to karyotyping. In these situations, confirmation using additional techniques is required.
Cell growth may be impacted in some circumstances when there is a problem with sample integrity (clotted/haemolysed), a second sample may be needed in certain circumstances.

Answers to Patient Concerns & Frequently Asked Questions (FAQs) about Karyotyping by G-Banding Peripheral Blood in New Delhi

Frequently Asked Questions about Karyotyping by G-Banding Peripheral Blood in New Delhi

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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