Laboratory Genomics


Learning Lab for Medical Laboratory Scientists

Author information
Avni Santani, PhD, FACMG
Christine Chung, MD
Drs Santani and Chung disclosed no conflict of interest

Learning objectives:

  • Understand basic definitions
  • Describe basics of mitochondrial genetics
  • Describe codon
  • Identify types of variants
  • Identify types of variants based on the functional consequence
  • Describe basics of HGVS nomenclature
  • Identify clinical implications of variants in common genetic disorders