Epigenetic test EpiSign Complete excluding late onset disorders . At this moment we can analyze 20 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 | 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 | Methylation array incl EpiSign Analysis |
| Turnaround time | 4 months |
| Price | € 1.050,00 |
