Epigenetic test: EpiSign Complete excluding late onset disorders. Check the disclaimer, the latest syndromes and corresponding genes included in this panel (note late onset is excluding cerebellar axtaxia DNMT1). Specify the syndrome of interest when ordering.
For patients with developmental delay, or with one or more overlapping features suggestive of one of the represented epigenetic signature conditions or imprinting disorders. Order Episign Specific for confirming a diagnosis of specific genes with the presence of a variant of unknown clinical significance.
Methylation abnormalities may require additional targeted genetic testing. This test will not detect females with Fragile X (FMR1) expansions.
Methylation array incl EpiSign Analysis