Whole genome methylation profiling for rare disease

Diagnostic episignatures have been identified for a growing number of rare disorders. Whole genome methylation profiling can be used as a diagnostic test and can aid the classification of Variants of Uncertain Significance.

Test details

DNA methylation data generated using Infinium Methylation array technology are compared to a database of known episignatures by our interpretation partner, EpiSign, London Health Care Sciences. This test can identify disease-specific episignatures or epivariants in patients with selected rare conditions.

Rare disease methylation array panel content can be found here

Test ordering

This test will be available on the national genomic test directory. Please see the national genomic test directory for eligibility criteria

Please note that there will be a charge for non-English and non-NHS patients.
The whole genome methylation profiling request form can be completed electronically or printed and completed by hand.

Whole genome methylation profiling test request form

Questions?

Please email mft.epipro.nwglh-lab@nhs.net