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Updated: Jun 26, 2026

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
SNP genotyping using the Sequenom MassARRAY iPLEX platform
Stacey Gabriel1, Liuda Ziaugra, Diana Tabbaa
1Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Current Protocols in Human Genetics
|January 27, 2009
Abstract:
The method for SNP genotyping described in this unit is based on the commercially available Sequenom MassARRAY platform. The assay consists of an initial locus-specific PCR reaction, followed by single base extension using mass-modified dideoxynucleotide terminators of an oligonucleotide primer which anneals immediately upstream of the polymorphic site of interest. Using MALDI-TOF mass spectrometry, the distinct mass of the extended primer identifies the SNP allele.

