How is ataxia-telangiectasia (AT) diagnosed?

Updated: May 27, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

In AT, chromosomal karyotyping should reveal reciprocal translocations between chromosomes 7 and 14. Chromosomal instability testing is done to confirm AT and NBS to assess spontaneous and induced breakage. Diagnostic findings are absence or dysfunction of the ATM protein and mutations in the ATM gene.


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