EpiSign Complete – Methylation analysis

Test code: AUA00001
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EpiSign Complete including late onset disorders [EPI]. At this moment we can analyze 21 syndromes.

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 abnormalties detected using this test may require additional targeted testing to confirm and further
characterize the underlying genomic abnormality. This test will not detect females with Fragile X (FMR1) expansions.

Disorder

ADCADN syndrome, ADNP related syndrome, ATRX related syndrome, BAFopathies, CHARGE syndrome, Claes-Jensen syndrome, Floating Harbor syndrome, Genitopatellar syndrome, Kabuki syndrome, Kagami–Ogata syndrome, Sotos syndrome, Temple syndrome, Williams-Beuren regio duplicatie syndrome, Angelman syndrome – AS, Beckwith Wiedemann syndrome – BWS, Cornelia de Lange syndrome, Fragile X syndrome, Mental Retardation, Prader Willi syndrome – PWS, Silver Russell syndrome – SRS, Williams-Beuren syndrome

Lab method

EpiSign, Methylation Analysis

Turnaround time

4 months

Price  1.050,00

Category:

  • a syndrome for Mental Retardation
  • ADCADN syndrome
  • ADNP related syndrome
  • Angelman syndrome - AS (OMIM: 105830)
  • ATRX related syndrome
  • BAFopathies
  • CHARGE syndrome
  • Claes-Jensen syndrome
  • Cornelia de Lange syndrome
  • Floating Harbor syndrome
  • Fragile X syndrome (OMIM: 300624)
  • Genitopatellar syndrome
  • Kabuki syndrome
  • Kagami–Ogata syndrome
  • Prader Willi syndrome - PWS (OMIM: 176270)
  • Silver-Russell syndrome - SRS (OMIM: 180860)
  • Sotos syndrome
  • Temple syndrome
  • Williams-Beuren regio duplicatie syndrome
  • Williams-Beuren syndrome
  • EpiSign

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