Congenital disorders of glycosylation (CDG), NGS

Metabolic Disorders Panel

21 days

Next Generation Sequencing

Genelist (179): A4GALT, ALDOB, ALDOC, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG5, ALG6, ALG8, ALG9, ARCN1, ARV1, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, C1GALT1C1, CAD, CANT1, CCDC115, CHST14, CHST3, CHST6, CHST8, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COPA, COPB2, CRPPA, CSGALNACT1, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, EOGT, EXT1, EXT2, EXTL3, FCSK, FKRP, FKTN, FUT8, G6PC3, GALE, GALK1, GALNT1, GALNT3, GALT, GANAB, GET4, GFM1, GFPT1, GFUS, GMPPA, GMPPB, GNE, GNPTAB, GOLIM4, GORAB, GORASP2, GOSR2, GPAA1, JAGN1, LARGE1, LFNG, MAGT1, MAN1B1, MAN2B2, MBTPS1, MGAT1, MGAT2, MOGS, MPDU1, MPI, MPV17, NANS, NGLY1, NUS1, OGT, PAPSS2, PGAP1, PGAP2, PGAP3, PGM1, PGM2, PGM3, PIGA, PIGB, PIGC, PIGG, PIGF, PIGL, PIGK, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIGY, PMM1, PMM2, POFUT1, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKCSH, RFT1, RPN2, RXYLT1, SAR1B, SEC23A, SEC23B, SEC24D, SEC63, SLC10A7, SLC26A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC9A7, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, STXBP1, SYP, TF, TGDS, TMEM165, TMEM199, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC6B, TRAPPC9, TRIP11, TUSC3, VMA21, VPS13B, XYLT1, XYLT2

Accredited NRL Laboratory

Once a week

Identify genetic mutations causing congenital disorders of glycosylation; precise diagnosis and management.

Peripheral Blood

5-7 mL whole blood OR DNA ≥ 100 µL

Lavender-top (EDTA) tube

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.