Karyotyping Test For Genetic Disorders and Abnormalities

Karyotyping test is a genetic diagnostic test that analyzes the number, size, and shape of chromosomes in a sample of cells, helping to detect chromosomal abnormalities and genetic disorders. It plays a crucial role in diagnosing conditions such as Down syndrome, Turner syndrome, and other genetic disorders caused by chromosomal abnormalities.

 

Karyotyping Test

Here are the basic details for Karyotyping Test.

Also Known As	Chromosome Analysis, Chromosome Karyotype, Chromosomal Analysis
Type	Cytogenetic test to examine the chromosomes in a sample
Purpose	Evaluating the number, structure, and arrangement of chromosomes to identify genetic abnormalities
Sample Type	Blood, bone marrow, or other tissue samples (e.g. amniotic fluid, placental tissue)
Preparation	No special preparation required
Fasting	Fasting is not required
Gender	All
Age Group	Any
Normal Value	46 chromosomes
Reporting Time	1 - 2 weeks
Cost	3000 - 4000 INR*

*Price range may vary as per location, lab type, and procedure of lab test.

 

Karyotyping Test Means

• Karyotyping Test is a cytogenetic test that examines the chromosomes in a sample.
• It helps evaluate the number, structure, and arrangement of chromosomes to identify genetic abnormalities.

Interesting Facts About Karyotyping

• Karyotyping is a technique used to examine chromosomes' number and structure.
• Karyotyping involves staining and arranging chromosomes for analysis.

 

Karyotyping Test Purpose

Here are the purposes of the Karyotyping Test.

• Assessing genetic abnormalities and chromosomal disorders.
• Identifying structural changes, such as deletions, duplications, inversions, or translocations in chromosomes.
• Diagnosing genetic conditions and syndromes.
• Providing valuable information for genetic counseling, family planning, and reproductive medicine.
• Monitoring treatment progress and response in certain disorders, such as leukemia or lymphoma.

 

 

Karyotyping Test Preparation

Here's the Karyotyping Test preparation information before, during, and after the test:

 

Before Test

• No special preparation is usually required for a Karyotyping Test.
• However, it's important to follow any specific instructions given by the healthcare provider or laboratory.

 

During Test

• The sample collection process may vary depending on the type of sample required (blood, bone marrow, and tissue).
• A healthcare professional will collect the sample using appropriate techniques and instruments.

 

After Test

• There are typically no specific post-test instructions, and normal activities can be resumed.
• The collected sample will be sent to a laboratory for analysis.
• The healthcare provider will communicate the results and provide any necessary explanations or recommendations.

Summary

No specific preparation needed; during the Karyotyping Test, sample is collected (blood, bone marrow, or tissue), afterward, normal activities can be resumed, and results will be communicated by the healthcare provider along with any necessary recommendations.

 

Karyotyping Test Procedure

Here's the Karyotyping Test Procedure presented in bullet format:

• The Karyotyping Test involves several steps to analyze the chromosomes of an individual:
  • Collection of a blood sample or other tissue sample (such as bone marrow or amniotic fluid) from the patient.
  • Culturing of the cells from the sample to promote cell growth.
  • Arresting the cell division at a specific stage using a chemical agent.
  • Cell fixation and staining to visualize the chromosomes under a microscope.
  • Examination of the stained chromosomes using high-powered microscopy.
  • Photographing and analyzing the chromosomes to identify any structural abnormalities, such as deletions, duplications, or rearrangements.
  • Documentation of the karyotype, which is a visual representation of an individual's chromosomes arranged in pairs.

 

Karyotyping Test Result

Karyotyping tests examine the structure and number of chromosomes in a person's cells.

• Each chromosome should normally have two copies, except for the sex chromosomes (XX for females and XY for males).
• A normal karyotype consists of 46 chromosomes, including 22 pairs of autosomes (non-sex chromosomes) and one pair of sex chromosomes.
• Abnormalities in karyotyping results can include extra or missing chromosomes, changes in chromosome structure, or variations in the number of copies.
• Karyotyping results are typically presented in a table format, where each chromosome is evaluated for its normalcy, and any abnormalities or variations are noted.

 

Karyotyping Test Report

Karyotyping Test Report PDF

 

Karyotyping Test Normal Report

Karyotyping Normal Test Report PDF Format

Karyotyping Test Normal Result Report PDF

 

Karyotyping Test Abnormal Report

Karyotyping Abnormal Test Report PDF Format

Karyotyping Test Abnormal Result Report PDF

 

Karyotyping Test Normal Range

The karyotyping test is used to examine the number, size, and shape of chromosomes in a person's cells. Here is a table presenting the normal range for karyotyping results:

Chromosome	Normal Range
Chromosome 1	2 copies
Chromosome 2	2 copies
Chromosome 3	2 copies
...	...
Chromosome 22	2 copies
Sex Chromosomes	XX (Female) or XY (Male) = 44 + 2
Total Chromosomes	46 (including 22 pairs of autosomes and 1 pair of sex chromosomes)

 

Karyotyping Test Interpretation

Here's an example of how the Karyotyping Test results can be presented in table format:

Karyotyping Result	Interpretation
Normal	No detectable chromosomal abnormalities observed
Abnormal	Presence of chromosomal abnormalities
Inconclusive	Insufficient or unclear results for interpretation

Summary

Karyotyping Test results provide detailed information about an individual's chromosomal structure and can identify chromosomal abnormalities or genetic disorders.

 

Specimen Requirments For Karyotyping Test

Here are the specimen requirements for the Karyotypin Test.

Specimen	Blood, bone marrow, or other tissue samples (e.g. amniotic fluid, placental tissue)
Volume	Test amount
Container	Vacutainer tube with EDTA anticoagulant

 

Karyotyping Test is Safe?

The Karyotyping Test is generally considered safe, as it involves the analysis of cells collected from blood, bone marrow, or other tissues.

• The procedure itself, which includes culturing cells, arresting cell division, and examining chromosomes, is performed in a laboratory setting and does not pose significant risks to the patient.

 

When Do You Get Karyotyping Test Results?

The turnaround time for Karyotyping Test results can vary depending on the laboratory and the complexity of the analysis.

• Typically, it may take 1 - 2 weeks to receive the final results of the Karyotyping Test, as the process involves cell culture, chromosome staining, microscopy analysis, and interpretation by a qualified geneticist.

 

Karyotyping Test Limitation

Here are some limitations of Karyotyping Test.

• Limited resolution for detecting small genetic abnormalities.
• Inability to detect certain types of genetic mutations.
• Time-consuming process with results typically taking several weeks.
• Requirement of live cells for testing, limiting availability of samples.
• Potential for false-negative or false-positive results due to technical factors.

 

Karyotyping Test Risk Factors

Here are risk factors associated with the Karyotyping Test.

• Invasive procedure may pose a risk of infection.
• Risk of miscarriage or fetal injury during prenatal karyotyping.
• Potential for emotional distress due to test results.

 

Doctor Recommendations After Karyotyping Test

Here are Doctor's recommendations or consult a specialist after the Karyotyping Test.

Test Result	Doctor to Visit	Reason to Visit
High Levels	Medical Geneticist	Evaluate genetic abnormalities or disorders
Normal Levels	Primary Care Physician	Discuss overall health and follow-up recommendations
Low Levels	Endocrinologist	Investigate potential hormonal imbalances or disorders

 

Karyotyping Test Price

Here are the estimated Karyotyping Test Price in India with top different cities:

City	Price Range (INR)*
Mumbai	3000 - 4000
New Delhi	3500 - 4000
Bangalore	3000 - 4000
Hyderabad	3500 - 4000
Kolkata	3000 - 4000
Pune	3500 - 4000
Lucknow	3500 - 4000
Noida	3000 - 4000
Surat	3500 - 4000
Gurugram	3500 - 4000
Patna	3000 - 4000
Chennai	3500 - 4000
Jaipur	3000 - 4000
Ahmedabad	3500 - 4000

*Prices are approximate and vary depending on a specific laboratory or healthcare facility.

 

Summary

Overall, Karyotyping Test is a diagnostic procedure used to analyze an individual's chromosomes for the detection of any structural abnormalities or variations that can provide valuable insights into genetic disorders and conditions. Also check Drlogy Test for detailed information about all medical tests for patients, doctors, scholers and medical students.

 

Reference

• Karyotype - Wikipedia [1].
• Genetics, Cytogenetic Testing And Conventional Karyotype NIH [2].