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.
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.
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.
Please email email@example.com