How is lecithin-cholesterol acyltransferase (LCAT) deficiency diagnosed?

Updated: Oct 16, 2019
  • Author: Catherine Anastasopoulou, MD, PhD, FACE; Chief Editor: George T Griffing, MD  more...
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Answer

Answer

A definitive diagnosis of familial LCAT deficiency or fish eye disease requires mutational analysis of the LCAT gene and a functional analysis of the mutated gene product. However, numerous other lab studies can be used in the diagnosis of these diseases.


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