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Which genetic conditions can karyotyping help diagnose?

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Karyotyping is a genetic test used to identify deviations in chromosome number or structure. By arranging chromosomes according to a standard classification scheme, it allows for the diagnosis of several conditions caused by aneuploidy (atypical chromosome number) and various structural aberrations.12

Conditions and disorders that can be diagnosed or identified through karyotyping include:

Aneuploidy-related syndromes:
- Down syndrome12
- Turner syndrome12
- Klinefelter syndrome12
Cancers and Tumors:
Karyotyping helps identify chromosomal aberrations (such as deletions, duplications, inversions, and translocations) associated with various malignancies, including:
- Leukemias and lymphomas2
- Solid tumors such as nephroblastoma, meningioma, neuroblastoma, retinoblastoma, renal-cell carcinoma, and small-cell lung cancer.2

Because this test is most effective at identifying large-scale defects involving hundreds or thousands of genes, it may not always provide conclusive results for smaller genetic mutations.2