Epigenetic test: EpiSign Specific. Check the disclaimer, the latest syndromes and corresponding genes included in this panel (updates 31 March 2020). Specify the specific gene(s) of interest when ordering the test.
Suitable for patients with developmental delay, or with one or more overlapping features suggestive of one of the represented epigenetic signature conditions or imprinting disorders.
Methylation abnormalities may require additional targeted genetic testing. This test will not detect females with Fragile X (FMR1) expansions.
CDCA7, Chr17Q23.1-q24.2 dup NSD1, Chr21 trisomy, Chr4p16.13 del, Chr7q11.23 del, Chr7q11.23 dupl, EED, FRA12A, HELLS, SMARCC, UPD11 (IC1 and IC2), UPD7, ADNP, ARID1A, ARID1B, ATRX, BRWD3, CHD2, CHD7, CHD8, CREBBP, DIP2B, DNMT1, DNMT3A, DNMT3B, EHMT1, EP300, EZH2, FMR1, HIST1H1E, KANSL1, KAT6B, KDM5C, KDM6A, KMT2A, KMT2D, KMT5B, MEG3, NIPBL, NSD1, PHF6, SETD1B, SETD5, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SNRPN, SRCAP, UBE2A, ZBTB24, ZNF711
EpiSign, Methylation Analysis