EpiSign – Complete excluding late onset disorders – Methylation analysis

Test code: AUA00002
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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.

Indications

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.

Detection

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

Lab method

Methylation array incl EpiSign Analysis
Turnaround time

4 months
Location

Location AMC
Price € 1.050,00

Category:

  • ADNP related syndrome
  • Alpha-thalassemia mental retardation (ATRX) syndrome (OMIM: 301040)
  • Angelman syndrome - AS (OMIM: 105830)
  • Autism, susceptibility to, 18 (OMIM: 615032)
  • BAFopathies
  • Blepharophimosis SMARCA2 Synd
  • Börjeson-Forssman-Lehmann Syndrome (OMIM: 301900)
  • Cerebellar ataxia, deafness and narcolepsy a.d. ADCADN syndrome - DNMT1 (OMIM: 604121)
  • CHARGE syndrome (OMIM: 214800)
  • Claes-Jensen syndrome
  • Coffin Siris syndrome CSS (1-4, 8)
  • Cornelia de Lange syndrome
  • Down syndrome (OMIM: 602523)
  • 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)
  • Nicolaides-Baraitser (NCBRS) syndrome (OMIM: 601358)
  • Prader Willi syndrome - PWS (OMIM: 176270)
  • Silver-Russell syndrome - SRS (OMIM: 180860)
  • Sotos syndrome
  • Temple syndrome (OMIM: 616222)
  • Methylation disorders
  • Beckwith Wiedemann syndrome - BWS (OMIM: 130650)
  • Blepharophimosi ptosis and epicanthus inversus syndrome - BPES (OMIM: 110100)
  • Mental Retardation
  • Nicolaides Baraitser syndrome (OMIM: 601358)
  • Williams-Beuren syndrome WBS (OMIM: 194050)

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