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Karyotyping Testing

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What is Karyotyping?

Karyotyping is a laboratory test to view a person's chromosomes. The arrangement and size as well as the shape of chromosomes are analyzed. There are 46 chromosomes in the normal human cell, occurring in 23 pairs. Such abnormal conditions either structurally or in number result in genetic diseases, infertility, and developmental defects.

Why is Karyotyping Done?

Doctors advise doing a Karyotype Genetic Test for the following reasons:

Genetic Disorders Diagnosis: Down syndrome, Turner syndrome, and Klinefelter syndrome are some conditions that can be identified through karyotyping.
Investigating Infertility: Investigations on Infertility Karyotyping Assists to Diagnose Causes of Inability to Conceive Infertility.
Recurrent Miscarriages: A Karyotyping test for miscarriages helps identify if chromosomal issues contribute to pregnancy loss.
Unexplained developmental issues: Children with intellectual disabilities or birth defects may undergo karyotyping for a genetic diagnosis.

Why is Karyotyping Done?

Karyotyping is done to examine the number and structure of chromosomes to diagnose genetic disorders, investigate infertility, or understand recurrent miscarriages.

Diagnose chromosomal disorders (e.g. Down, Turner, Klinefelter syndromes)
Investigate infertility or recurrent miscarriages
Evaluate developmental delays or birth defects
Prenatal screening when indicated

What Does Karyotyping Check?

Karyotyping checks:

Number of chromosomes (e.g. 46 in normal cells)
Structure of chromosomes (deletions, duplications, translocations)
Sex chromosomes (XX/XY)
Aneuploidy and structural rearrangements

How is Karyotyping Performed?

The karyotyping procedure typically involves:

1. Sample collection

Blood, bone marrow, amniotic fluid, or placental tissue is collected.

2. Cell culture

Cells are grown in culture to obtain dividing cells for chromosome analysis.

3. Chromosome staining and imaging

Chromosomes are stained and viewed under a microscope.

4. Analysis and report

A genetic specialist arranges chromosomes into a karyotype; a report is generated (results may take 1–3 weeks).

How to Prepare for Karyotyping

For blood karyotyping, usually no fasting. For prenatal karyotyping, the sample is obtained via amniocentesis or CVS; follow the preparation for that procedure. Your doctor will give specific instructions.

Understanding Karyotyping Results

Normal karyotype: 46, XX (female) or 46, XY (male) with no structural abnormality. Abnormal results may show aneuploidy, translocations, or other changes; our team will explain what they mean for fertility, pregnancy, or your child's health.

Cost of Karyotyping

Karyotyping test cost varies by sample type and laboratory. Contact us for pricing and to book an appointment.