Microdeletion Syndrome

This test detects a distinct subset of recurrent microdeletions and 2 microduplications (mentioned in the table below) in genomic DNA isolated from human peripheral whole blood, (cultured amniotic fluid obtained in week 16 of the pregnancy or later and free from blood contamination, cultured chorionic villi free from maternal contamination. intended to confirm a potential cause for and clinical diagnosis of developmental delay, intellectual disability and/or congenital anomalies.

5-7 business days

EDTA blood, amniotic fluid, CVS

ARSA, CDC45, CLDN5, CLTCL1, CREBBP, CYP1A1, DCDC1, DGCR8, DLG1, DMD, DRC3, EIF3H, ELN, EXT1, FANCC, FSHB, GABRD, GATA3, GNB1, GNB1L, GP1BB, IRX4, JAG1, KANSL1, LETM1, LLGL1, MAPT, MBD5, MECP2, MED15, METTL16, NF1, NSD1, PAFAH1B1, PAX6, PEX13, PPIL2, PTCH1, RABL2B, RAI1, REL, RTDR1, SATB2, SEMA5A, SEMA7A, SHANK3, SNAP29, SNRPN, TERT, TNFRSF4, TOM1L2, TRPS1, TWIST1, UBE3A, WHSC1, ZNF74