Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics

Area of Science:

• Epigenetics and Genomics
• Molecular Diagnostics
• Computational Biology

Background:

• DNA methylation (DNAm) testing has a long history in diagnostics, primarily for imprinting disorders and specific gene promoters.
• Advancements in DNA methylation arrays (e.g., Illumina EPIC Beadchip) enable cost-effective and timely epigenome analysis.
• These arrays provide new insights into imprinting disorders like Beckwith Wiedemann syndrome.

Purpose of the Study:

• To highlight the expanding applications of DNA methylation (DNAm) testing in diagnostics.
• To showcase the utility of DNAm tests like EpiSign for diagnosing genetic disorders, particularly neurodevelopmental disorders.
• To discuss exemplary findings and future potential of DNAm testing in clinical diagnostics.

Main Methods:

• Utilizing high-throughput DNA methylation arrays (e.g., Illumina Infinium Methylation EPIC Beadchip).
• Comparing experimental DNAm data against databases of known episignatures.
• Analyzing DNAm patterns associated with genetic and environmentally induced disorders.

Main Results:

• DNA methylation (DNAm) tests facilitate timely and cost-effective epigenome analysis.
• Identification of discrete episignatures enables fast and definite diagnoses for multiple disorders.
• Demonstrated application of DNAm testing for environmentally induced clinical disorders.

Conclusions:

• DNA methylation (DNAm) testing is a rapidly expanding and powerful diagnostic tool.
• The identification of specific episignatures allows for precise diagnosis of various genetic and environmental disorders.
• DNAm testing holds significant promise for future clinical diagnostics across a broad range of applications.