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  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)
  • Blepharophimosis SMARCA2 Synd
  • Coffin Siris syndrome CSS (1-4, 8)
  • Down syndrome (OMIM: 602523)
  • Nicolaides-Baraitser (NCBRS) syndrome (OMIM: 601358)
  • Blepharophimosi ptosis and epicanthus inversus syndrome - BPES (OMIM: 110100)
  • Mental Retardation
  • Börjeson-Forssman-Lehmann Syndrome (OMIM: 301900)
  • Nicolaides Baraitser syndrome (OMIM: 601358)
  • Williams-Beuren syndrome WBS (OMIM: 194050)

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