The list of diseases and genes included in the screening test
Type of diseases | Diseases and genes |
Aneuploidies (7 diseases) | Trisomy 21 Trisomy 18 Trisomy 13 45, X 47, XXX 47, XXY 47, XYY |
Microdeletion and microduplication syndromes (9 diseases) | DiGeorge syndrome 1p36 deletion syndrome 2q33.1 deletion syndrome Angelman syndrome Prader-Willi syndrome Cri du Chat syndrome Wolf-Hirschhorn syndrome Langer-Giedion syndrome Jacobsen syndrome |
Monogenic disorders (155 diseases with related 75 genes)* | Representative diseases and genes: Noonan spectrum disorders (PTPN11, SOS1, RIT1, RAF1, etc.) Osteogenesis imperfecta (COL1A1, COL1A2, IFITM5) Achondroplasia (FGFR3) Crouzon syndrome (FGFR2, FGFR3) CHARGE syndrome (CHD7) Rett syndrome (MECP2) Tuberous sclerosis (TSC1, TSC2) |
*See supplemental materials for the full list of monogenic disorders.