What samples can be used for genetic testing?

Genetic testing utilizes a variety of biological samples depending on the diagnostic purpose and the specific genetic material being analyzed. Common sources for these samples include:

• Blood: White blood cells (specifically T lymphocytes) are frequently used for cytogenetic analysis because they multiply rapidly in cell culture. Maternal blood can also be used to reconstruct the fetal genome.12
• Tissue and Bone Marrow: Chromosomes can be extracted from skin cells or bone marrow cells.1
• Prenatal Samples: Fetal cells can be obtained through amniocentesis (analyzing amniotic fluid) or chorionic villus sampling (aspiration of cells from the future placenta).21
• Embryonic Cells: During preimplantation genetic diagnosis, a single cell is extracted from an embryo for analysis.21
• Other Biological Material: Genetic material can also be sourced from paternal saliva.2

These samples are analyzed using various procedures, such as DNA sequencing, polymerase chain reaction, and fluorescence in situ hybridization, to investigate chromosomes, genes, or biochemical markers.2134