Blood
Karyotyping
Numerical and structural abnormalities in chromosomes.
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About The Test
Identifies
Numerical and structural abnormalities in chromosomes.
Measures
The number, size, and shape of chromosomes within a cell sample.
Why This Test
What Is the Karyotyping Test and Why Is It Important?
What Does the Karyotyping Test Measure?
When to Take Test
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?
Who Should Consider Taking the Karyotyping Test?
Benefits
The Advantages of the Karyotyping Test for Your Health
What Conditions Can the Karyotyping Test Diagnose?
Preparing for Test
Preparing for Your Karyotyping Test
Test Results
Interpreting the Results of Your Karyotyping Test
| Parameter/Analyte | Normal Finding (Example) | Interpretation of Abnormal Finding (with ISCN examples) |
|---|---|---|
| Total Chromosome Count | 46 | More 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 Chromosomes | XX (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 Chromosomes | 22 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 Integrity | No visible deletions, duplications, translocations | Presence 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. |