Epigenetic test EpiSign Variant [EPI] . Please indicate a disorder above.
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.
- 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
FRA12A, ADNP, ARID1B, ATRX, CHD7, DNMT1, KAT6B, KDM5C, KMT2D, NIPBL, NSD1, RAD21, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SRCAP
EpiSign, Methylation Analysis