A novel method to assess copy number variations in melanocytic neoplasms: Droplet digital PCR for precise quantitation of MYC and MYB genes.

Alvaro J Ramos-RodriguezJason R McFaddenShabnam Momtahen Robert E LeBlanc Shaofeng YanAdvaita S ChaudhariJeffrey M CloutierMirjana StevanovicRachael BarneyMarie SykuMario Lozano-FrancoEdward HughesAravindhan Sriharan

Published in: Journal of cutaneous pathology (2023)

We demonstrate the first use of a multiplexed ddPCR assay to identify CNVs in melanocytic neoplasms. With further improvement and validation, ddPCR may represent a low-cost and rapid tool to aid in the diagnosis of histopathologically ambiguous melanocytic tumors.

Keyphrases

copy number
low cost
genome wide
mitochondrial dna
transcription factor
high throughput
single cell
dna methylation
ms ms
mass spectrometry
liquid chromatography tandem mass spectrometry
high performance liquid chromatography
tandem mass spectrometry
loop mediated isothermal amplification