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Genome Services Maastricht UMC+

Genomics

At Genome Service Maastricht UMC+, we offer a wide range of latest state-of-the-art genomics services from array analysis to conventional single gene sequencing to whole genome sequencing (WGS). To ensure our service’s quality, techniques used in our lab are accredited. We have a team of experts that could help you with your project. Our goal is to provide our customer a successful project. 

Services

  • Whole genome sequencing (WGS)

    Our whole genome sequencing service offer you enormous access to genomic information. It identifies almost all changes in DNA sequences both coding and non-coding regions of the genome. Depends on your wish, our bioinformatic team could offer you either raw or annotated data. We also have a team of experts that could help you with data interpretation. 
     

  • Whole exome sequencing (WES)

    While targeted genetic testing focuses on a single gene or a limited set of predetermined genes, WES inspects all the protein coding regions in the genome (exons) at the same time. All types of mutations are possibly detected by this assay. This shows the higher diagnostic yield of exome sequencing than Sanger sequencing. Raw data will be delivered. Moreover, if you wish, our genetic experts and bioinformatic team are happy to help you with data annotation and interpretation.

  • Target (panel) sequencing using smMIPs technique

    If you know your gene panel, we also have a wide range of tests to cover your needs with a shorter turnaround time and full coverage of the exons including the intron-exon limits. Using single molecular Molecule Inversion Probes (smMIPs) technology, we have several target panels available. Please contact us for our in house target panels.

    We also have team of expert to help you develop your panel of interest. Together with our genetic experts and bioinformatic team, we assure you high data quality with data annotation and/or interpretation.

  • Conventional single gene sequencing (using Sanger sequencing)

    Many genetic diseases are caused by changes or variants in a single gene. We also offer a single gene sequencing in wide range of genes. The coded area and the intron-exon boundaries are fully sequenced using Sanger sequencing technique.

    Please contact us for list of genes we could offer.

  • Genome wide array analysis 

    We also offer microarray‐based copy number and genotype analysis service to our customers. Genome-wide array analyses is used for germline detection and studying genomic abnormalities such as deletions, insertions, Copy Number Variants (CNVs) and Regions of Homozygosity (ROHs). Platforms that we use are Cytoscan HD and Cytoscan XON from Thermo Fisher.

  • Fluorescence in situ hybridization (FISH)

    FISH is a molecular cytogenetic technique that uses fluorescent probes to identify chromosomal aberrations of known target chromosome. FISH can be used to detect familial known chromosomal translocation, mosaic (sex) chromosomal disorder and confirmation of chromosomal abnormality found by array analysis or karyotyping. 

    Please contact us for our FISH service.

  • Karyotyping

    Karyotyping is a laboratory procedure that provides a genome-wide snapshot of individual’s chromosomes. It can reveals whether there are any chromosomal abnormalities and/or  structural changes, such as chromosomal deletions, duplications, translocations, or inversions. Our karyotyping experts could help you with your research project.

    Please contact us for our karyotyping service.

  • Single cell genomics

    Single cell genomics is an advanced approach that helps us understanding individuality of cells. Current advances in the techniques for isolating single cells, together with amplifying their genetic material procedures, it is now possible to study the genomes of single cells.

    Contact us if you have research questions concerning single cell genomics. Our single cell genomics experts are happy to help you. 

Equipment available

  • Illumina NextSeq 
  • Illumina NovaSeq
  • PacBio Sequel I and II
  • BioNano Genomics Saphire
  • Cytoscan HD and Cytoscan XON

We are pleased to be a part of your research project. When you are planning an experiment relating to genomics, feel free to contact us and start discussing your genomics project with our experts.

Genome Services MUMC+
Wanwisa van Dijk, PhD
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