Human genome-wide methylation profiling

Some rare genetic disorders are caused by imprinting defects. While some human imprinting defects are well known clinically and genetically (e.g., Prader-Willi and Angelman syndromes, Russell-Silver syndrome, Beckwith-Wiedemann syndrome, etc.), other conditions are still to be characterized. This is the moment when Methylome analysis comes in place.

At Breda Genetics we can help you with the confirmation of known methylation disorders through Methylation-specific MLPA analysis, but we can also help you with genome-wide studies to get the entire human methylation profile.

Human genome-wide methylation profiling is available by EXOME 60 EPIC (a combination of whole-exome sequencing and human methylation chip assay) or the more complex FULL GENOME BISULPHITE.

EXOME 60 EPIC combines EXOME 60, our most wanted whole exome sequencing solution for detecting SNVs, CNVs, and mitochondrial DNA variants, with genome-wide methylation studies by the Illumina EPIC chip.

FULL GENOME BISULPHITE only includes the study of the methylation profile. However, this analysis comes at unprecedented levels of specificity: the average level of methylation is given for every single dinucleotide of the DNA chain (3 billion positions). The amount of data produced is vast, and our dedicated Bioinformatics can produce usable results for your research.

Please note that the methylation profile results of EXOME 60 EPIC and FULL GENOME BISULPHITE are produced for Research Use Only.

Technical specifications


Illumina methyation chip or full genome bisulphite

Sample specifications

DNA (at least 1μg), EDTA-blood (purple cap tube), dried blood spots (Breda Genetics filter cards).


EXOME 60 EPIC: 12 months. FULL GENOME BISULPHITE: 6 months.


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The human methylation report is offered as Research Use Only (RUO).


Contact us to get more information about human methylome studies


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