EpiSign Specific – Methylation analysis

Test code: AUA00003
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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

Lab method

EpiSign, Methylation Analysis

Turnaround time

4 months


Location AMC

Price  850,00


  • Methylation disorders
  • ADNP related syndrome
  • Angelman syndrome - AS (OMIM: 105830)
  • BAFopathies
  • Beckwith Wiedemann syndrome - BWS (OMIM: 130650)
  • Claes-Jensen syndrome
  • Cornelia de Lange syndrome
  • Floating Harbor syndrome
  • Fragile X syndrome (Affected males only) (OMIM: 300624)
  • Genitopatellar syndrome
  • Kabuki syndrome
  • Kagami–Ogata syndrome UPD14 (OMIM: 608149)
  • Mental retardation, FRA12A type (OMIM: 136630)
  • Prader Willi syndrome - PWS (OMIM: 176270)
  • Silver-Russell syndrome - SRS (OMIM: 180860)
  • Sotos syndrome
  • Temple syndrome (OMIM: 616222)
  • Angelman syndrome - AS (OMIM: 105830)
  • Prader Willi syndrome - PWS (OMIM: 176270)
  • CHARGE syndrome (OMIM: 214800)
  • Cerebellar ataxia, deafness and narcolepsy a.d. ADCADN syndrome - DNMT1 (OMIM: 604121)
  • Alpha-thalassemia mental retardation (ATRX) syndrome (OMIM: 301040)
  • Autism, susceptibility to, 18 (OMIM: 615032)
  • Coffin Siris syndrome CSS (1-4, 8)
  • Down syndrome (OMIM: 602523)
  • Nicolaides-Baraitser (NCBRS) syndrome (OMIM: 601358)
  • Börjeson-Forssman-Lehmann Syndrome (OMIM: 301900)
  • Nicolaides Baraitser syndrome (OMIM: 601358)
  • Williams-Beuren syndrome WBS (OMIM: 194050)

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