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Congenital Disorders of Glycosylation Gene Panel

New York
Approved


Genes

ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6AP1, ATP6V0A2, B3GALNT2, B3GALT6, B3GALTL, B3GAT3, B4GALNT1, B4GALT1, B4GALT7, CCDC115, CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, EOGT, EXT1, EXT2, FKRP, FKTN, FUT8, G6PC3, GALNT3, GFAT1, GMPPA, GMPPB, GNE, GTDC2, ISPD, LARGE, LFNG, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PAPSS2, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PMM2, POFUT1, POGLUT1, POMGNT1, POMK, POMT1, POMT2, RFT1, RPN2, SEC23A, SEC23B, SLC26A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC39A8, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, TMEM165, TMEM199, TMEM5, TRAPPC11, TRIP11, TUSC3, XYLT1

Conditions

  • Congenital Disorder of Glycosylation

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a congenital disorder of glycosylation
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

J977

CPT Codes*

81405x1; 81479x1

ABN Required

No

Turnaround Time**

6 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.