Laboratory Genomics


Learning Lab for Medical Laboratory Scientists

Author information
Anne B.S. Giersch, PhD, FACMG
Heather Mason-Suares, PhD, FACMG
Drs Giersch and Mason-Suares disclosed no conflict of interest

Learning objectives:

  • Describe chromosomes
  • Describe cytogenetics
  • Explain numerical chromosome abnormalities
  • Explain structural chromosome abnormalities
  • Explain sex chromosome abnormalities
  • Describe cytogenetics techniques: Karotype, FISH, Chromosomal Microarray
  • Explain cytogenetic nomenclature