Karyotyping is used to diagnose congenital chromosomal abnormalities, including aneuploidy, structural chromosomal abnormalities, and balanced rearrangements of genetic material.
More information
The chromosomal analysis involves studying the chromosomal composition of an individual and is called also a karyotype. The karyotype studies both the number of chromosomes and their structure. This test is used to determine chromosomal abnormalities and to determine the sex of the child in cases of questionable genitals or before childbirth. A karyotype is considered part of the laboratory testing performed to investigate amenorrhea, infertility, and frequent miscarriages. It is also used for genetic counseling in people with a family history of genetic diseases.
Chromosomal analysis usually involves culturing white blood cells from the peripheral blood, but can also be done with other tissues, including amniotic fluid, bone marrow cells, buccal smear, chorionic villi, placental tissue, skin cells, and cancer cells.
Reference Values
- Female: 44 Autosomes plus 2 X chromosomes. Karyotype: 46, XX
- Male: 44 Autosomes plus 1 X and 1 Y chromosomes. Karyotype: 46, XY
Possible Interpretations of Pathological Findings
- Ambiguous genitals, Down syndrome, hyperdiploid (> 46 chromosomes), hypogonadism, hypoploidy (< 46 chromosomes), Kleinfelter syndrome, mental retardation, physical developmental delay, trisomy 18, Turner syndrome
Important Note
Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-80% of diagnostic decisions are based on laboratory tests. The correct interpretation of laboratory results allows a doctor to distinguish "healthy" from "diseased".
Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be interpreted in relation to each individual case and family history, clinical findings, and the results of other laboratory tests and information. Your personal physician should explain the importance of your test results.
At Diagnostiki Athinon we answer any questions you may have about the test you perform in our laboratory and we contact your doctor to get the best possible medical care.
