Karyotyping is a cytogenetic technique that visually examines chromosomes under a microscope.

Clinical uses include:

Detecting chromosomal abnormalities (e.g., Down syndrome, Turner syndrome, Klinefelter syndrome).

Evaluating infertility and recurrent miscarriages.

Diagnosing blood cancers (e.g., leukemia, lymphoma).

Supporting prenatal diagnosis for suspected genetic disorders.

The test is performed using a blood sample, bone marrow, amniotic fluid, or other tissue.

Chromosomes are stained, arranged, and analyzed for number, size, shape, and banding patterns.

Analyte: Chromosomes in human cells.

Normal Result: 46 chromosomes (23 pairs: 22 autosomes + 1 pair of sex chromosomes).

Abnormal Findings:

Numerical abnormalities (e.g., trisomy 21, monosomy X).

Structural abnormalities (e.g., translocations, deletions, duplications, inversions).

Clinical Use:

Confirms genetic syndromes.

Assists in cancer diagnosis and prognosis.

Guides reproductive counseling and prenatal care.