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Platform Technologies

Real time or quantitative Polymerase Chain Reaction (rt-PCR or qPCR) with High Resolution Melt Analysis (HRMA)

This highly quantitative technique enables amplification of specific regions of interest in nucleic acid molecules (DNA or RNA) and detection in real-time, in a closed tube system. As there is no post-PCR sample handling involved, the risk of amplicon carry-over contamination (which is one of the biggest drawbacks of conventional PCR) and errors associated with human handling are minimized. Our optimized assays using highly efficient detection chemistries and sensitive instrumentation allow for the detection of extremely low amounts of DNA in clinically relevant biological matrices. Typical uses of real-time PCR include pathogen detection, gene expression analysis (comparing mRNA levels, as in the case of certain cancers), single nucleotide polymorphism (SNP) analysis or analysis of allelic variations in genomic regions, and analysis of chromosomal abnormalities such as deletions, inversions and translocations.

Multiplex Ligation Dependent Probe Amplification (MLPA)

This variation of PCR enables amplification, relative quantification of copy number variations and detection of known mutations in genomic DNA of up to 50 target sequences simultaneously, with a single set of primers. The MLPA method is used for detection of copy number variations such as deletions and duplications in multi-genic disorders and/or disorders involving extremely large genes as in the case of muscular dystrophy.

Capillary/Sanger Sequencing

This gold standard method for reading the bases of DNA up to 1000 nucleotides at a time played an essential role in the sequencing of the human genome. This method is useful for smaller genes or localized hotspots of mutations and has been applied for DNA mutation testing in disorders such as cystic fibrosis, Huntingtonā€™s disease and alpha thalassaemia.

Next Generation Sequencing (NGS)

These cutting edge methods extend the sequencing process across millions of reactions in a massively parallel fashion, rather than being restricted to a single or a few DNA fragments. The newly generated fragments of DNA are then reassembled like a giant jigsaw puzzle, thus enabling rapid sequencing of large stretches of DNA - ranging from a group of candidate genes or all coding regions in a genome (exome sequencing) to the entire human genome. This technique enables comprehensive analysis of conditions that involve multiple and/or large genes as in the case of breast and colon cancer susceptibility.

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