How is a diagnosis of a low LDL cholesterol syndrome confirmed?

Updated: Mar 06, 2018
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Answer

The molecular diagnosis of familial hypobetalipoproteinemia can be performed only in specialized laboratories; it is accomplished through the examination of the plasma apoB, using gel electrophoresis or deoxyribonucleic acid (DNA) analysis to identify specific mutations.

The demonstration of the molecular defect in persons with abetalipoproteinemia requires a specialized laboratory for the detection of low or absent MTP in intestinal biopsy specimens or DNA analysis to identify specific mutations.


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