Description
Why It’s Done
The test is primarily used for:
• Confirming biological sex in cases of ambiguous genitalia, where external physical characteristics may not clearly indicate sex at birth.
• Detecting Turner syndrome, Klinefelter syndrome, and other chromosomal disorders involving X chromosomes.
• Diagnosing gender-related chromosomal abnormalities, such as an extra X chromosome (e.g., in males with Klinefelter syndrome who have XXY chromosomes).
• Evaluating the number of X chromosomes in females (e.g., in cases of XXY or XXX).
In some cases, this test may be performed if there are developmental or physical signs that do not align with typical male or female patterns, helping to clarify the chromosomal makeup.
Preparation
• No special preparation is typically required.
• A buccal smear is collected by gently rubbing a swab inside the patient’s cheek to collect cells.
• Inform the healthcare provider if there are any medications or conditions that could affect the test results (such as any history of genetic disorders
