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Cytogenetics

Solutions for consistent and cost-effective results

Our liquid handling expertise enables reliable automation of high complexity molecular diagnostic techniques – such as cytogenetics (karyotyping and FISH) and molecular cytogenetics (aCGH/array comparative genomic hybridization) – for a range of applications, from metabolic diseases and cancers to reproductive genetics and transplantation medicine.

The portfolio covers the key stages of cytogenetics and molecular cytogenetics workflows, from standardized workstations with validated applications and dedicated user interfaces to highly customized platforms developed in collaboration with the Tecan Integration Group.

Related products:  Freedom EVO®

Karyotyping and FISH

Our automated solutions cover key stages of clinical workflows for karyotyping and FISH, including hypotonic and fixation treatments of cell cultures, and the pipetting of cell suspension drops onto slides.

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Hypotonic and fixation treatments

Our customized metaphase harvesters offer consistently high quality metaphase spreads from blood cultures. Automation eliminates labor-intensive and repetitive tasks, such as centrifugation of cell suspensions, aspiration and safe disposal of supernatants, hypotonic pre-treatment, and fixation of cells. These steps are carried out in a one-step protocol under controlled environmental conditions, without the need for user interaction, enhancing the quality and reproducibility of the process.

Slide preparation and metaphase sample spreading

Metaphase spreading onto glass slides is influenced by temperature and humidity. Our dedicated solution provides optimal conditions for spreading cell suspensions onto glass slides, and improves throughput by aspirating water before the suspended cells. This ensures consistent sample spreading and helps to prevent cross-contamination.

A standard Freedom EVO is configured to process and spread 48 samples onto barcoded slides.

The barcode scanner on the pipetting arm checks the sample rack and slide IDs for the first 24 slides then, once processing of these is complete, the next sample rack and 24 slides are scanned.

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Pipette FISH probes and cover with coverslip

A Matrix 2D barcode scanner can be mounted at the lower tip ejection position of one of the Freedom EVO workstation’s pipetting arms, allowing the identification of 2D barcodes on tube lids positioned in the cooled carrier.

  • Workstation capacity of up to 50 slides, 500 cover slips and 128 probes
  • Target position (metaphase chromosome) and transfer of FISH probe identification file
  • 1.5 μl of the FISH probe is pipetted and covered with a cover slip

A second Matrix 2D barcode scanner – mounted at the lower tip ejection position of a second pipetting arm – can be used to read the 2D barcodes on microscope slides positioned in the slide carriers. Each liquid channel of this arm is equipped with a vacuum valve and adapter to allow transport of 10 mm diameter cover slips, as well as a vacuum sensor to detect if a cover slip is not attached correctly. These sensors can be polled via Freedom EVOware software commands.

Molecular cytogenetics – aCGH

The automation of aCGH workflows requires quantification and normalization of DNA, quality control measurements, DNA labeling by random priming, mixing, and loading of DNA samples onto the microarray.

DNA quantification is performed using the Promega QuantiFluor® ONE dsDNA System that quantifies dsDNA without binding to ssDNA, RNA or protein contaminants.

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DNA quantification, normalization, random priming DNA labeling, purification and loading of the microarray

  • dsDNA quantification on the Freedom EVO includes automated barcode reading of microtubes, preparation of a standard curve for fluorometric DNA quantification, dilution of DNA samples, addition of the QuantiFluor dye and fluorescence measurement on an Infinite® 200 PRO reader.
  • Based on the quantification results, the DNA samples are normalized to achieve a target concentration.
  • DNA samples are then labeled with Cy5 and Cy3 dyes using random priming.
  • The entire process is performed on Freedom EVO workstation, including master mix preparation, enzyme and random priming buffer addition, and incubation on a thermoshaker.
  • DNA samples are mixed in microtubes according to the worklist, followed by protein precipitation. Each pellet is then automatically diluted in hybridization solution, and loaded onto the aCGH microarray slide.
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Quantification and normalization

Automation offers rapid DNA and RNA quantification with excellent sensitivity for fluorescence- and UV-based analyses, as well as normalization to your target concentration.

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Freedom EVOware® ensures process security

  • Software records every action performed by the Freedom EVO in real time.
  • Optional Pressure Monitored Pipetting (PMP™) allows the detection of liquid handling errors by evaluating signals in real time and flagging the wells associated with any faults.
  • Safe pathways reduce the risk of cross-contamination as tips never travel over a sample or labware on the workdeck.
  • Freedom EVOware can inform you when the system needs attention via email or mobile phone.

Freedom EVOware Sample Tracking

  • Sample tracking registers tubes and plates, and tracks volumes and concentrations.
  • Results are prepared on a plate map report, and can be exported as a plate map file.
  • Ouickviewer provides real time information and fast search options.
  • Easy report customization and a large library of standard plate- and sample-based reports.
  • Web-reporting tool.
  • LIMS integration through CSV file interfaces.
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Brochures

Fully automated liquid handling and robotics for life sciences and diagnostics

Application Notes

Array comparative genomic hybridization enables genome-wide screening of copy number variations with high resolution. aCGH more and more replaces karyotyping as a routine diagnostic tool for the detection of cryptic chromosomal anomalies in patients with developmental delays, ...

The DNA quantitation is critical for applications such as NGS, qPCR and molecular cytogenetics applications. Quantitation and normalization can easily be automated on a Freedom EVO work station with an integrated Infinite 200 reader.

Tecan Journal Articles

With an ever-increasing workload, Germany’s Munich Leukemia Laboratory has automated its cytogenetics protocols on five Freedom EVO® workstations, enabling leaner, standardized, more effi cient processing and minimizing the potential for human error

The Necker Hospital for Sick Children has automated its comparative genomic hybridization workflow on a Freedom EVO® workstation, increasing throughput more than 10-fold while significantly improving reproducibility and process security.

Specialist laboratories engaged in molecular genetics and cytogenetics are turning to automation to cope with ever-increasing sample numbers, implementing tailored solutions designed to handle a range of materials and meet specific testing needs.

Human genetics and drug discovery are now inextricably linked, with large pharmaceutical companies, small biotech and even academic laboratories turning to sequencing data to identify potential targets for new therapies. But is this information being used to the best effect? And does genetic testing have a role to play in helping today's patients as well as tomorrow’s? Dr Pierre-Alain Menoud, Scientific Manager for Molecular Diagnostics at Unilabs in Lausanne, Switzerland, discusses the potential benefits of genetic testing for both the understanding and treatment of disease.

The Necker Hospital for Sick Children has automated its comparative genomic hybridization workflow on a Freedom EVO® workstation, increasing throughput more than 10-fold while significantly improving reproducibility and process security.

Tecan and the Integrated BioBank of Luxembourg (IBBL) have successfully co-developed an automated platform for buffy coat extraction based on a Freedom EVO® 200 workstation, relieving scientific staff from this time-consuming task and significantly increasing the yield of DNA.

Not all products are available in all countries.
For research use only.