Cytogenetics is the study of chromosome alterations, such as damaged, missing, altered, or additional chromosomes, in tissue, blood, or bone marrow samples. Chromosome changes could indicate a genetic disorder, illness, or even some types of cancer. The examination of human chromosomes also aided in the physical mapping of genes, the knowledge of the relationship between genetics and the cause of cancer, and the development of prenatal testing as a method of genetic disease prevention. The blood, bone marrow or prenatal samples are cultured, harvested, and stained to produce metaphases that consists out of 23 pairs of chromosomes. These chromosomes are arranged in pairs to determine if there are any cytogenetic abnormalities.

Molecular cytogenomics is the study of the chromosomes, but at a molecular gene level. Traditional cytogenetic methods have limited resolution and speed but can be used to identify disease and outline therapy options when looking for broken, missing, rearranged, or additional chromosomes. Optical genome mapping (OGM) streamlines the conventional cytogenetic assays into a single procedure and detects all CNVs, chromosomal abnormalities, and structural variations. All kinds of structural variants, even those present at low allele fractions in heterogeneous cancer samples, can be accurately and impartially detected by optical genome mapping using the Saphyr® System. This cutting-edge tool has completely matched classic techniques such array CGH, karyotyping, and FISH in numerous studies, revolutionizing the field of cytogenomics. With the Saphyr system, you can quickly combine 3 tests into 1 to obtain findings with a single simplified procedure in a reduced turnaround time.

The following reasons may lead to your doctor requesting for prenatal Cytogenetics or Cytogenomic testing

  • STI screening
  • Familial or personal history of genetic conditions
  • Pregnancy over age 35
  • History of miscarriage or stillbirth
  • Abnormal first or second trimester screening test
  • Maternal anxiety
  • If you had a previous baby with a known genetic, chromosome or birth defect

The following reasons may lead to your doctor requesting for postnatal Cytogenetics or Cytogenomic testing

  • STI screening
  • Infertility
  • Sexual development abnormalities
  • Developmental delay or intellectual disability
  • Dysmorphism
  • Congenital abnormalities
  • Recurrent miscarriages

Cytogenetics and Cytogenomics are used daily to provide heme oncologists a diagnosis, prognosis, staging, and monitoring the response to treatment for patients with leukemia.