Genetic Diagnostic Tools in 2018

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Dr. Austin Larson, a geneticist at Children’s Hospital Colorado, provided this overview of genetic tools and testing at the Indian Health Service Clinical Rounds on May 3rd, 2018.

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Jump to specific topic:

  • What is pediatric clinical genetics? (6:19)
  • When could I refer a child to a genetics clinic? (11:42)
  • What are the reasons to do genetic testing? (15:05)
  • Karyotype (25:50)
  • Cell-free Fetal DNA (29:00)
  • FISH (31:00)
  • Chromosomal Microarray (32:49)
  • Targeted Sequencing (37:25)
  • Whole Exome Sequencing (38:39)