Chromosomal Analysis (Karyotyping) Blood Test

Identify Potential Genetic Or Chromosomal Abnormalities

Disease.

Genetic Tests

Department.

Cytogenetics

TAT.

14 Days

Sample Type
  • Blood (2X5 mL) in Na-Heparine Tube

What Is A Chromosomal Analysis (Karyotyping) Blood Test?

Chromosomal analysis, or karyotyping, is a laboratory test that examines an individual’s chromosomes to detect abnormalities in their number, size or structure. Chromosomes are thread-like structures in cells that contain DNA and genetic information. This test is performed on blood samples to identify genetic disorders such as Down syndrome, Turner syndrome, Klinefelter syndrome, and other chromosomal defects.

Karyotyping is often recommended for individuals with unexplained developmental delays, infertility, recurrent miscarriages, or suspected genetic conditions. It helps doctors confirm diagnoses, guide treatment plans, and assess risks for future pregnancies. The test is also used in prenatal screening when there is a high risk of genetic abnormalities in the fetus.

How is the Test Performed?

Sample Collection
A blood sample is taken from a vein.

Cell Culturing
The white blood cells are cultured in a lab to stimulate cell division.

Chromosome Staining
Cells are treated to arrest division at the metaphase stage, where chromosomes are most visible.

Microscopic Analysis
A geneticist examines the stained chromosomes under a microscope to check for abnormalities in number (trisomy 21) or structure (translocations, deletions).

What are the symptoms that prompt this test?

Common Symptoms that may warrant this test are:
Adults

  • Infertility or reproductive issues
  • Recurrent miscarriages
  • Unexplained developmental or intellectual disabilities
  • Abnormal physical features (webbed neck, short stature)
  • Certain cancers (leukemia, lymphoma) requiring genetic profiling

Children & Infants

  • Delayed growth or puberty
  • Congenital birth defects
  • Intellectual disabilities or learning difficulties
  • Ambiguous genitalia or sexual development disorders

In Pregnancies (Prenatal Testing)

  • Abnormal ultrasound findings
  • High-risk prenatal screening results
  • Family history of genetic disorders

What are Normal Ranges for This Test?

  • Men
    A normal male karyotype is written as 46,XY, indicating 46 chromosomes including one X and one Y chromosome.
  • Women
    A normal female karyotype is written as 46,XX, indicating 46 chromosomes with two X chromosomes.


Any variation from these patterns may suggest chromosomal abnormalities such as trisomy, monosomy or translocations.

What Happens if Test Results Show Abnormal Levels?

If karyotyping reveals abnormalities:

  • Genetic Counseling –A specialist explains the implications and inheritance risks.
  • Further Testing –FISH (Fluorescence In Situ Hybridization), microarray, or whole-genome sequencing may be recommended.
  • Treatment Planning –Management depends on the condition—hormone therapy for Turner/Klinefelter syndrome, early intervention for developmental delays.
  • Prenatal Guidance –Parents may opt for additional prenatal diagnostics (amniocentesis, CVS).

Additional Information About Chromosomal Analysis Blood Test

When to Seek Medical Attention

If you have a family history of genetic disorders or symptoms like recurrent miscarriages, delayed development, or unexplained physical abnormalities.
Related Tests

  • Prenatal testing (NIPT)
  • FISH
  • Microarray Analysis

Conditions Affecting Results

  • Recent blood transfusions
  • Ongoing chemotherapy or radiotherapy
  • Sample contamination or culture failure

Why Choose Genex?

State Of The Art Technology

We use advanced technology and equipment to ensure precise and reliable results. Our cutting-edge tools and methodologies guarantee the highest standards of lab testing.

Highly Skilled Team

Our team consists of skilled technicians trained to handle complex hormonal tests with high accuracy. Each member has years of experience & specialized knowledge to every test.

Fast Turnaround Time

Get your results quickly, helping to make timely decisions regarding your health. We understand the importance of prompt information for effective health management.

Patient-Centered Care

Genex Lab prioritizes your comfort and satisfaction throughout the testing process. Our compassionate approach ensures a supportive and reassuring experience for patients.

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