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Updated: Jun 16, 2026
Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions
Published on: September 25, 2018
Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD
Dragana Milosevic1, Patrick Lundquist, Kendall Cradic
1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA.
Background:
Lack of sequencing validation and complexity of deletion testing hinder genetic diagnosis of SDH-associated paraganglioma/pheochromocytoma.
Methods:
We developed sequencing assays and multiplex ligation-dependent probe amplification (MLPA) deletion detection for SDHB, SDHC and SDHD. Clinical performance was validated on 141 blinded samples, previously tested at NIH.
Results:
Sequencing and deletion detection were highly reproducible and agreed with previous NIH results in 99.3% and 100%, respectively.
Conclusions:
DNA sequencing combined with MLPA allows reliable and simplified genotyping of SDHB, SDHC and SDHD.
