• Test Code:
    1475
  • Department:
  • Test Synonyms:
    CDGALG1ALG11ALG12ALG13ALG2ALG3ALG6ALG8ALG9ATP6V0A2B4GALT1COG1COG4COG5COG6COG7COG8 DDOSTDOLKDPAGT1DPM1DPM3GNEMGAT2MOGSMPDU1MPIPMM2RFT1SLC35A1SLC35C1SRD5A3TMEM165TUSC3
  • CPT Code(s):
    81406
Background:

Congenital disorders of glycosylation (CDG) are a group of disorders affecting the conjugation of proteins, lipids, and other molecules with oligosaccharides. These disorders cause multi-systemic phenotypes including developmental delays, seizures, hypotonia and hypoglycemia. This next-generation sequencing test can help complement biochemical glycosylation screens in the diagnosis of CDG which assesses the coding regions for 34 genes associated with congenital disorders of glycosylation. These rare conditions are inherited in an autosomal recessive or X-linked manner.

Reasons for Referral:

  • Confirmation of a clinical diagnosis
  • Carrier screening

Methodology:

Next generation sequencing will analyze the exons or coding regions of 34 genes associated with Congenital Disorders of Glycosylation using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions. Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

Congenital Disorders of Glycosylation (34 genes): ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM3, GNE, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1, SRD5A3, TMEM165, TUSC3

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

Saliva: 2 ORAgene Saliva Kit(s) (OGR-500)
Skin Fibroblast: Punch Biopsy, or 2 T-25 confluent flasks
DNA: 1-2µg at a minimum of 50-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

For routine testing of blood, saliva and buccal swabs, KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion.  For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. GeneReviews: Congenital Disorders of N-Linked Glycosylation Pathway Overview http://www.ncbi.nlm.nih.gov/books/NBK1332/

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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