Test Menu
Condition
Test Name
Glycosylation (CDG) disorders gene panel
Inclusive Genes
ALG1, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6AP1, ATP6V0A2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, CAD, CCDC115, CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, EOGT, EXT1, EXT2, FKRP, FKTN, GALNT3, GFPT1, GMPPA, GMPPB, GNE, ISPD, LARGE, LFNG, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NANS, NGLY1, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGC, PIGG, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PIGY, PMM2, POFUT1, POGLUT1, POMGNT1, POMT1, POMT2, PRKCSH, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC39A8, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, TMEM165, TMEM199, TMEM5, TRAPPC11, TUSC3, VPS13B, XYLT1, XYLT2
Specimen Type
Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid/ Dried Blood Spots (FTA Cards)/ Product of Conception (POC)