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Test ID: CDGGP    
Congenital Disorders of Glycosylation Gene Panel, Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

Establishing a molecular diagnosis for patients with congenital disorders of glycosylation

 

Identifying variants within genes known to be associated with congenital disorders of glycosylation, allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 141 genes associated with congenital disorders of glycosylation: ALDOB, ALDOC, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG5, ALG6, ALG8, ALG9, ARCN1, ARV1, ATP6AP1, ATP6V0A2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, C1GALT1C1, CCDC115, CHST14 ,CHST3, CHST6, CHST8, CHSY1, COG1,COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, EOGT, EXT1, EXT2, FKRP, FKTN, FCSK, FUT8, G6PC3, GALE, GALK1, GALNT2, GALNT3, GALT, GET4, GFM1,GFPT1, GMPPA, GMPPB, GNE, GNPTAB, GOLIM4, GORASP2, CRPPA, LARGE1, LFNG, MAGT1, MAN1B1, MAN2B2, MBTPS1, MGAT1, MGAT2, MOGS, MPDU1, MPI, MPV17, NGLY1, NUS1, PAPSS2, PGAP2, PGAP3, PGM1, PGM2, PGM3, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PMM1, PMM2, POFUT1, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKCSH, RFT1, RXYLT1, SEC23A, SEC23B, SEC63, SLC10A7, SLC26A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, STXBP1, SYP, TF, TMEM165, TMEM199, TRAPPC9, TRAPPC11, TRIP11, TSTA3, TUSC3, VMA21, XYLT1. See Targeted Genes and Methodology Details for Congenital Disorders of Glycosylation Gene Panel in Special Instructions and Method Description for additional details.

 

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for congenital disorders of glycosylation.

 

Additional first tier testing may be considered/recommended. For more information see Testing Algorithm or Ordering Guidance sections.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Lysosomal Storage Disorders Diagnostic Algorithm, Part 2 in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

No

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

CDG Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

Next Gen Sequencing Test
B3GALTL
B3GNT1
Carbohydrate Deficient Glycoprotein Syndrome (CDGS)
CDG (Congenital Disorders of Glycosylation)
CDGP
CDGS (Carbohydrate Deficient Glycoprotein Syndrome)
CDT (Carbohydrate Deficient Transferrin)
Congenital Disorders of Glycosylation (CDG)