Laboratory Genomics


Learning Lab Advanced

Author information
Murat Bastepe, PhD, MD, FACMG
Hana Zouk, PhD, FACMG
Dr Bastepe disclosed salary from Sema4
Dr Zouk disclosed no conflict of interest

Learning objectives:

  • Describe  Mendel’s Laws: Repeat expansion and imprinting disorders, and mitochondrial inheritance
  • Explain Huntington disease
  • Determine imprinting disorders
  • Describe trinucleotide repeat disorders
  • Explain Fragile X Syndrome and other FMR1-related disorders
  • Explain special considerations
  • Discuss mitochondrial Inheritance