Unlocking CNV Certainty: What We Shared at ESHG 2025

We were delighted to attend the 2025 edition of the European Human Genetics Conference in Milan, Italy, alongside a delegation of a large number of MRC Holland colleagues. 

This year, we asked a simple question: "Struggling with CNV detection in NGS?"

It resonated with many in the community and sparked valuable conversations, confirming what we’ve long observed — many labs are still seeking greater certainty in CNV detection than most current NGS-based workflows can deliver, particularly in complex genomic regions such as PMS2 and PTEN.

That’s why we’re more committed than ever to making digitalMLPA accessible to labs worldwide — offering precision, speed, scalability, and cost-efficiency in one powerful platform.

In addition to our three oncology-focused digitalMLPA panels, we have several exciting new products in development. It was a pleasure to preview some of these during the poster sessions, and we appreciated the many insightful discussions that followed.

Click on the buttons below to view our posters and get an early look at what's coming soon.

Coming soon 
"Genome-wide detection of gross copy number alterations associated with genetic conditions using digitalMLPA"

In development 
"A promising single DNA-based assay to test for hemoglobinopathies, congenital adrenal hyperplasia, cystic fibrosis, spinal muscular atrophy and severe combined immunodeficiency for newborn screening"

In development 
"digitalMLPA: a new frontier in the simultaneous determination of copy number and methylation status across multiple imprinting-associated differentially methylated regions"

Want to stay informed about upcoming digitalMLPA products?

Click here to to explore what’s in the pipeline and register for updates on the probemixes that interest you.