• Complete list of EpiSign genes (v5_2024_03) includes 84 Gene(s)

• Epigenetic signature - Syndromes with ID/behavioral abnormalities/autism spectrum disorders includes 46 Gene(s)

• Epigenetic signature - Syndromes with multiple congenital anomalies (with or without ID) includes 16 Gene(s)

• Epigenetic signature - Syndromes with macrocephaly / macrosomia / adipositas and DD includes 17 Gene(s)

• Multi-locus imprinting disturbances - methylation analysis includes 9 Gene(s)

• Epigenetic signature - Syndromes with short stature includes 13 Gene(s)

• Cafe-au-lait spots: NF1 and differential diagnoses incl. CMMRD includes 7 Gene(s)

• Mosaic disorders - asymmetric Overgrowth includes 28 Gene(s)

• Mosaic disorders - Complete Panel includes 39 Gene(s)

• Mosaic disorders-OnDemandMosaik includes 39 Gene(s)

• Mosaic disorders - Phacomatoses, basic diagnostics includes 3 Gene(s)

• Angelman/Rett-like phenotypes includes 29 Gene(s)

• Cohesinopathies and related disorders includes 9 Gene(s)

• Cornelia de Lange syndrome includes 7 Gene(s)

• Coffin-Siris and Nicolaides-Baraitser syndrome (CSS, NCBRS) includes 8 Gene(s)

• Asymmetric overgrowth syndromes / phakomatoses includes 21 Gene(s)

• Intellectual Disability – treatable includes 140 Gene(s)

• Kabuki syndrome includes 2 Gene(s)

• Growth delay / Short stature – comprehensive panel includes 89 Gene(s)

• Macrocephaly includes 45 Gene(s)

• Metabolic disorders with dysmorphism includes 44 Gene(s)

• Neurofibromatosis includes 1 Gene(s)

• Noonan syndrome - PTPN11 gene includes 1 Gene(s)

• Noonan syndrome - comprehensive panel includes 16 Gene(s)

• RASopathies includes 24 Gene(s)

• Sotos syndrome and related overgrowth syndromes includes 5 Gene(s)

• Growth delay includes 12 Gene(s)

• X-linked mental retardation includes 109 Gene(s)