NIPT kengaytirilgan panel

5 500 000 so‘m

Ushbu tekshiruv orqali homilada quyidagi anomaliyalar aniqlanadi: trisomiya 21 xromosoma (Daun sindromi), trisomiya 18 xromosoma (Edvards sindromi), trisomiya 13 xromosoma (Patau sindrom), jinsiy aneuploidiyalar; mikrodelesiya sindromlari: mikrodelesiya 22q11.2 (DiDjordji sindromi), mikrodelesiya 1r36 (1r36 sindromi), mikrodelesiya 15q11-13 (Angelman/ Pradera-Villi sindromi), mikrodelesiya 4r16.3 (Volf-Xirshxorn sindromi), mikrodelesiya 5r15 (mushuk yigʻisi sindromi); homilador ayolning genida autosomial retsessiv kasalliklarni tashishlik holati kuzatilganda: CFTR, PAH, GALT, GJB2, SLC26A4, TPP1, ATP7B, DARS2, DHCR7, HEXA, IDUA, PIGN, PKHD1, PMM2, SLC26A2, USH2A, SMARCAL1, ALDOB. Tayyorlanishi: 10 ish kuni.