EpiSign Complete – Methylation analysis

Test code: AUA00001
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Epigenetic test: EpiSign Complete.Check the disclaimer, the latest syndromes and corresponding genes included in this panel. Specify suspicion of one of the syndromes 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 detected using this test may require additional targeted genetic testing. This test will not detect females with Fragile X (FMR1) expansions.

Lab method

EpiSign, Methylation Analysis
Turnaround time

4 months
Location

Location AMC
Price € 850,00

Disorder(s)

  • Methylation disorders
  • a syndrome for Mental Retardation
  • 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)
  • Blepharophimosis SMARCA2 Synd
  • Down syndrome (OMIM: 602523)

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