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.
2010 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.