What is the role of polymerase chain reaction (PCR) assay in the diagnosis of McCune-Albright syndrome (MAS)?

Updated: Jan 17, 2019
  • Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD  more...
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Answer

A highly sensitive polymerase chain reaction (PCR) assay is capable of detecting activating mutations of the GNAS1 gene in peripheral blood cells of patients with MAS or isolated fibrous dysplasia (FD). [38] Using next-generation sequencing (NGS), millions of PCR amplicons can be analyzed in an independent fashion, and this can be expected to quantitatively detect low-abundance GNAS. NGS is able to detect somatic activating GNAS mutations sensitively and quantitatively and from peripheral blood. Now the peptide nucleic acid/NGS method appears most likely the most sensitive method to detect low-abundance mutated GNAS. [39]


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