EpiSign Variant – Methylation analysis

Test code: AUA00003
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Epigenetic test EpiSign Variant [EPI] . Please indicate a disorder above.

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.

Syndrome:                                                                                      Gene:

 

  • ADCADN syndrome;                                                         DNMT1 (NB: Late-onset disorder)
  • ADNP gerelateerd syndrome                                            ADNP
  • ATRX gerelateerd syndrome;                                           ATRX
  • BAFopathies;                                                                    ARID1B, SMARCB1, SMARCA4, SMARCA2
  • Cornelia de Lange syndrome                                           NIPBL, RAD21, SMC3, SMC1A
  • CHARGE syndrome                                                         CHD7
  • Claes-Jensen syndrome                                                  KDM5C
  • Floating Harbor syndrome                                               SRCAP
  • Genitopatellar syndrome                                                 KAT6B
  • Kabuki syndrome                                                            KMT2D
  • Sotos syndrome                                                              NSD1
  • Mental retardation                                                           FRA12A type

 

Genes

FRA12A, ADNP, ARID1B, ATRX, CHD7, DNMT1, KAT6B, KDM5C, KMT2D, NIPBL, NSD1, RAD21, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SRCAP

Lab method

EpiSign, Methylation Analysis

Turnaround time

4 months

Price  1.050,00

Category:

  • a syndrome for Mental Retardation
  • ADCADN syndrome
  • ADNP related syndrome
  • ATRX related syndrome
  • BAFopathies
  • CHARGE syndrome
  • Claes-Jensen syndrome
  • Cornelia de Lange syndrome
  • Genitopatellar syndrome
  • Kabuki syndrome
  • Sotos syndrome
  • EpiSign

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