Karyotype genetic test

Explanation

A karyotype test examines the number and visible structure of chromosomes in cells from a sample. Chromosomes are packages of DNA, the material that carries genetic information. The test can identify an extra or missing chromosome and some large changes in chromosome structure.

Why does the type of sample matter?

The test describes the cells that were examined. Blood is a common sample, but bone marrow or a sample taken during pregnancy may be used for a different clinical question. Not every genetic change is present in every part of the body.

A chromosome change may be inherited or may have developed later in a group of cells. The sample and the exact finding help the clinician interpret this; an abnormal karyotype does not automatically mean an inherited condition.

What can a normal result miss?

A normal result means that no chromosome-number or structural change detectable by this method was found in the cells examined. Karyotyping cannot detect every small change in DNA. It can also miss a change that is present in only some cells or in another tissue.

Other genetic tests examine different kinds or sizes of change. Whether another test is useful depends on the reason for testing and the rest of the findings. A normal karyotype does not rule out every genetic condition.

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