Karyotyping

Lab Test
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Lab Test

Certified Labs

NABH Accredited

60 mins collection

Not specified

Reports in

Not specified

Measures

The number, size, and shape of chromosomes within a cell sample.

Identifies

Numerical and structural abnormalities in chromosomes.

60
Mins Home Collection
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About The Test

What Is the Karyotyping Test and Why Is It Important?

What Does the Karyotyping Test Measure?

When Is the Karyotyping Test Usually Taken?

Are There Any Risks or Limitations to the Karyotyping Test?

List of Parameters

What Parameters Are Evaluated in the Karyotyping Test?

Why This Test

Who Should Consider Taking the Karyotyping Test?

Benefits

The Advantages of the Karyotyping Test for Your Health

What Conditions Can the Karyotyping Test Diagnose?

Test Preparation

Preparing for Your Karyotyping Test

Test Results

Interpreting the Results of Your Karyotyping Test

Parameter/AnalyteNormal Finding (Example)Interpretation of Abnormal Finding (with ISCN examples)
Total Chromosome Count46More than 46 (e.g., 47 chromosomes) indicates aneuploidy such as trisomy. Example: 47,XX,+21 (female with an extra chromosome 21 = Down syndrome). Less than 46 (e.g., 45 chromosomes) indicates monosomy. Example: 45,X (Turner syndrome).
Sex ChromosomesXX (Female), XY (Male)Variations include: - 45,X (Turner Syndrome, monosomy X) - 47,XXY (Klinefelter Syndrome, extra X in males) - 47,XYY (Jacobs Syndrome) - 47,XXX (Triple X Syndrome) — all indicate sex chromosome aneuploidies.
Autosomal Chromosomes22 pairs, structurally normal (homologous pairs match)Numerical abnormalities: - Trisomy 13: 47,XX,+13 - Trisomy 18: 47,XY,+18 Structural abnormalities described by ISCN: - Deletion: del(5p) (deletion on short arm of chromosome 5) - Duplication, inversion, translocation - Translocation example: t(9;22)(q34;q11.2) (Philadelphia chromosome in CML)
Structural IntegrityNo visible deletions, duplications, translocationsPresence of structural abnormalities is indicated by specific notations, e.g.: - del(5p) deletion - inv(9)(p11q12) inversion on chromosome 9 - t(1;3)(p36;q21) translocation between chromosomes 1 and 3. These changes can affect gene function and clinical phenotype.

FAQs

What is the main difference between karyotyping and genetic testing for specific genes?

How long does it take to get Karyotyping results?

Is the Karyotyping procedure painful?

How much does a Karyotyping test cost?

What are the next steps if Karyotyping results are abnormal?*

When might a doctor recommend a Karyotyping test?

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