Chromosomal analysis (Karyotyping)-constitutional

Karyotyping is a laboratory test that is used in diagnosis of various chromosomal abnormalities. It is a type of cytogenetic test. A cytogenetic test is a lab test which helps to study chromosomes and their structure, variation and function. Humans have total of 46 chromosomes (23 pairs) in each cell with one pair inherited from mother and another from father .These chromosomes are made up of genes which are the basic unit of inheritance from parents to children. The total number of genes that a human has is called as genome. Genes are made up of DNA (deoxyribonucleic acid) molecules. These chromosomes carry all information for each cell to work efficiently.

The three main types of cytogenetic test are as follows:

Karyotyping
Fluorescent in situ hybridisation (FISH)-
Comparative genomic hybridisation (CGH) and array comparative genomic hybridisation (aCGH).

Constitutional Karyotyping for chromosomal analysis helps to detect genetic abnormalities in children, adults, foetus during pregnancy and also to find the cause of foetal loss. These genetic abnormalities can either be inherited or can occur spontaneously. The common chromosomal abnormalities which can be detected with help of Karyotyping are as follows:

Aneuploidies-presence of abnormal number of chromosomes .For example: down’s syndrome, patau syndrome, turner syndrome, Edward syndrome, klinefelter syndrome
Polyploidy-presence of more than one pair of chromosomes like triploidy and tetraploidy
Structural abnormalities-it is defined as breaking and rejoining of chromosomes or its segments .For example:deletions,duplications,insertions,translocations,inversions

The advantages of Karyotyping for chromosomal analysis are:

It has genome –wide approach
It can detect both numerical and structural chromosomal abnormalities
It is an old and well established technology

Why is Chromosomal analysis (Karyotyping)-constitutional prescribed?

The health care provider may prescribe Karyotyping test in the following conditions:

1. during PREGNANCY-to detect foetal chromosomal abnormalities under certain circumstances like:

abnormal maternal serum screening test(during first and second trimester)
abnormal non-invasive prenatal testing(NIPT),screening(NIPS) OR abnormal cell-free DNA testing(cfDNA)
maternal age >35 years
family history of chromosomal abnormality

2. Fetal or neonatal death-to rule out genetic cause

3. Infant and childhood –to detect chromosomal abnormalities under certain circumstances like:

Presence of birth defects, malformations, dysmorphism etc. in newborn
presence of delayed growth, failure to thrive and short stature in child
presence of development delay in child
intellectual and learning disability in child
presence of neurological symptoms like seizures, hypotonia in child
presence of behavioural issues in child like autism, obsessive compulsive disorder, psychiatric illness

4. Adolescent and adult-in certain circumstances like:

amenorrhea (absence of menses in females),premature ovarian failure, premature menopause
azoospermia (absence of sperms ),oligospermia (decrease number of sperms)
presence of recurrent abortions in female
past history of birth of child with chromosomal abnormality

Procedure and prerequisites

The sample to be collected for Karyotyping test depends on the purpose of the test. The various samples on which Karyotyping test is done are as follows:

peripheral blood
buccal swab
skin biopsy
amniotic fluid
chorionic villus sampling
foetal tissues

Relevant clinical history/physical examination findings must be sent along with the sample. A properly filled requisition form must accompany the sample.

Chromosome Analysis (Karyotyping): Constitutional - Non-Oncology in Mysore

Chromosome Analysis (Karyotyping): Constitutional - Non-Oncology in Mysore

K0009

Daily

Completely filled test requisition form (TRF) duly signed mandatory.

7-10 working Days

₹4,800

Parameters

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