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Rare Disease Forum by Genetidoc Genetic Clinic Forums Genetic Testing Karyotyping What’s the difference between a karyotype, FISH, and microarray?

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    • #311
      Anonymous
      Moderator

      What’s the difference between a karyotype, FISH, and microarray?

    • #321
      Sana Fathima K S
      Keymaster

      These three tests look at your chromosomes at different levels of detail, and geneticists often use them together rather than picking just one:

      *Karyotype- a whole-genome overview. It shows the number and general structure of all 46 chromosomes and can catch large-scale changes (extra/missing chromosomes, big deletions or rearrangements), but it can’t see very small changes.
      *Fluorescence In Situ Hybridization- a targeted test. A fluorescent probe is designed to bind to one specific region of interest, giving a fast, precise yes/no answer about that particular spot, but it only checks the region(s) you test for, not the whole genome. The results turn around time is faster compared to karyotyping.
      *Chromosomal Microarray (CMA)- a genome-wide scan for small gains or losses of genetic material, at a resolution far beyond standard karyotyping, though it generally can’t detect balanced rearrangements (where material is rearranged but nothing is gained or lost).

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