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Genetic Analysis: Introducing an Affordable, Easy-to-use Capillary Electrophoresis Platform

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Thermo Fisher Scientific recently launched a new capillary electrophoresis (CE) system designed to offer a low-throughput, cartridge-based system for Sanger sequencing and fragment analysis. For use with oncology research, genome editing, species identification, and human cell line authentication among other common applications, the Applied Biosystems™ SeqStudio™ Genetic Analyzer supports the growing need for an affordable and easy-to-use CE platform.

To find out more about the introduction of the SeqStudioTM system we spoke to early adopting customer, Dr. Jan Schouten, CEO, MRC-Holland. 

Can you provide us with an overview of MRC Holland and what you do?

MRC-Holland is a privately owned company in Amsterdam, The Netherlands, founded in 1985, that produces Multiplex Ligation Dependent Amplification (MLPA) kits for research and diagnostic use. These kits are used in 80 countries and on more than 2.5 million DNA samples to detect small copy number changes of specific DNA sequences that lead to various diseases such as Duchenne muscular dystrophy and thalassemia’s. We have MLPA kits for more than 400 different applications. Most popular are MLPA kits for copy number changes in the hereditary breast cancer genes BRCA1 and BRCA2. In diagnostic labs, MLPA is regarded the gold standard for the multiplex detection of deletions and duplications in specific genes. 


You’ve been operating as an early access site for SeqStudio. What have you been using it for so far?

A: Our MLPA kits use capillary electrophoresis for the detection and quantification of the up to 60 different MLPA amplicons in each reaction. We have tested the SeqStudio instrument and optimized the settings for MLPA analysis in order to guide our future customers that will use this instrument. We expect this instrument to become quite popular by our customers and it is important for us to have experience with each capillary electrophoresis instrument in order to inform and help our customers.


In your opinion, what are the key beneficial features of the SeqStudio system?

A very important aspect of the new instrument is the relatively low price. Considerably lower as compared to existing instruments. This will allow many departments to run their own instrument rather than to use a central facility in the hospital or university. Despite the lower price, the capacity of the SeqStudio is still sufficient for most users as the instrument can handle complete microtiter plates. We estimate that at least 144 MLPA reactions can be run on the instrument in 24 hrs. The smaller bench space required and the ease of use as compared to older instruments will also be very much appreciated by the users. We expect that run failures will be diminished as the reagents are cooled inside the instrument and the capillaries are replaced after a certain number of runs. This will certainly improve the quality control of the electrophoresis part of the MLPA procedure.


What are your plans for using the system from now on? Do you think that it will help to open up any new applications or opportunities for MRC Holland?

The lower price and ease of use may allow us to bring the MLPA products from academic hospitals and universities to the laboratories of smaller hospitals. As MLPA is increasingly being used also for tumour analysis and routine applications such as HLA typing in celiac disease, this may open a new market for us.