Karyotype of peripheral blood lymphocytes can identify numerical and structural chromosomal abnormalities of all chromosomes. Chromosomal abnormalities, mainly balanced rearrangements, are related to both male and female infertility. The carrier of a balanced rearrangement has a normal phenotype, but he/she has a higher risk of having abnormal gametes leading to miscarriages and/or the birth of a child with chromosomal abnormality. Thus, karyotype testing is recommended for couples with infertility problems, two or more miscarriages, IVF failure, as well as a previous child with chromosomal abnormality.
Detection of a chromosomal abnormality is crucial for the planning of a subsequent pregnancy, naturally or after IVF.
Culture of peripheral blood lymphocytes and chromosome analysis using high-resolution G-banding. Subsequent detailed microscopic analysis and chromosome pairing allows the detection of numerical and structural chromosomal abnormalities. Structural abnormalities may involve loss, duplication or reciprocal translocation of chromosomal segments between two chromosomes.
Sample type: Peripheral blood in dry heparin tubes (vacutainer with lithium heparin – green lid)
Turnaround time: 2-3 weeks
The department of Cytogenetics participates successfully to the external quality scheme organised by GenQA for Peripheral Blood Karyotype analysis.