Test for karyotype
The cytogenetic investigation (or karyotype) is performed on cultured lymphocytes isolated from a peripheral blood sample.
Its purpose is to study the chromosomal configuration in order to highlight the presence of any chromosomal abnormalities, both numerical (such as trisomies, monosomies, and the presence of a marker) and structural (translocations, deletions, and inversions).
Diseases caused by chromosomal abnormalities are among the most important causes of miscarriage, fetal death, or congenital malformations.
KARYOTYPE
Available panels
Karyotype from peripheral blood
Karyotype from peripheral blood - Couple panel
Karyotype from peripheral blood - 100 metaphases
KARYOTYPE
Who it's recommended for
The karyotype from peripheral blood is recommended in cases of:
Couples with reproductive difficulties
If there is a family history of a genetic disorder
When the patient presents symptoms suggestive of a genetic disorder
Couples who are embarking on an assisted reproduction journey
Recurrent miscarriage
KARYOTYPE
Analysis method
The karyotype is performed by taking a 3-5 ml sample of peripheral blood. The lymphocytes present in this biological sample are cultured with a nutrient medium in a suitable incubator at a temperature of 37°C to induce active cell replication.
Each cell in culture begins to undergo cell division and forms a 'clone' of identical cells. When the clones are well-developed and present in sufficient numbers, the growth of the cells is halted, and microscopic observation of the chromosomes is performed.