EpiSign – Complete excluding late onset disorders – Methylation analysis

Test code: AUA00002
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Epigenetic test EpiSign Complete excluding late onset disorders. Check 45 syndromes ( EpiSign v2 ) at once in one analysis. Suspicion of one of the syndromes can be specified when order test.

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 Variant for confirming a diagnosis with the presence of a variant of unknown clinical significance.

Detection

Methylation abnormalities 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

EpiSignature for syndrome (list EpiSign v2). Clinical diagnosis available, EpiSignature for syndrome (list EpiSign v2). No prior diagnosis, extra to WES/WGS, Imprinting and Trinucleotide Repeats Disorder (list EpiSign v2). Clinical diagnosis available, Imprinting and Trinucleotide Repeats Disorder (list EpiSign v2). No prior diagnosis, extra to WES/WGS

Lab method

Methylation array incl EpiSign Analysis

Turnaround time

4 months

Price  1.050,00

Category:

  • a syndrome for Mental Retardation
  • 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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