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.

Indications

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.

Detection

Methylation abnormalities may require additional targeted genetic testing. This test will not detect females with Fragile X (FMR1) expansions.

 

Genes

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

Location AMC
Price € 850,00

Disorder(s)

  • 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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