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Updated: Oct 19 2021

Fluorescence In Situ Hybridization (FISH)

  • Overview
    • Function
      • detect the presence/location of a specific region of DNA in the genome
    • Process
      • a probe for a desired DNA sequence is created with a fluorescent tag
      • probe is added to DNA sample and color is detected, usually with chromosomes in metaphase (condensed and coiled)
    • Clinical use
      • detect microdeletions, translocations, and aneuploidies
        • ex.) a probe for chromosome 7 would only have one signal if the patient had a monosomy as opposed to 2 in a normal sample
        • can also be used to diagnose Prader-Willi syndrome (15q) deletion
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