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Rare Disease Forum by Genetidoc Genetic Clinic Forums Frequently Asked Questions If I have a rare or “undiagnosed” condition, can genetic testing still help?

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    • #367
      Anonymous
      Moderator

      If I have a rare or “undiagnosed” condition, can genetic testing still help?

    • #368
      Sana Fathima K S
      Keymaster

      Yes. Broader tests like whole exome or whole genome sequencing are specifically designed for situations where a diagnosis hasn’t been found through other means. They look across many genes at once and can sometimes identify a cause that more targeted testing missed.

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