Introduction

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Sequenom MassARRAY systemThe Centre for Genomic Sciences at The University of Hong Kong is equipped with a Sequenom MassARRAY system with technology based on MALDI-TOF (matrix-assisted laser desorption/ionization time-of-flight) mass spectrometry. It allows efficient and  precise molecular  mass determination and has proven to be an attractive option for analyzing diallelic or trialleic single nucleotide polymorphisms (SNPs), point mutations and insertion/deletion mutations in amplified DNA fragments. The various applications of the system include SNP genotyping, DNA methylation, molecular typing, quantitative gene expression and somatic mutation profiling.

A range of advance machineries are employed to operate the system, including the SequenomCompact mass spectrometer, the Samsung Nanodispenser, a robotic liquid handler and a series of Applied Biosystems 384-well PCR machines.

For SNP genotyping, customized assays with client-selected targets can be designed by the CGS or by the clients.  

For somatic mutation profiling, optimized panels are pre-designed and validated by Sequenom.  These panels can serve as a useful tool for targeted discovery and validation of tumor samples, as well as cell line characterization for drug discovery and development. As an example, the OncoCarta? Panel v1.0 offers a comprehensive screening of 19 oncogenes and 238 mutations.  It can be used to analyze  solid tumor samples with as little as 10% mutation frequencies.  Its use has also be demonstrated in paraffin-embedded tissues and a variety of other sample materials.