Multiple choice

A major limitation of DNA-based carrier screening in cystic fibrosis is

  1. germline mosaicism

  2. laboratory errors in mutation analysis

  3. negative carrier testing

  4. incomplete ascertainment of mutations
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

The current approach to carrier detection involves testing of a limited panel of mutations, which results in failure to detect some of the rarer CFTR mutations.

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