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Test Name:
Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum

• SBMF No:
  42274
• Performance Lab Name:
  Mayo Medical Laboratories
• Test Mnemonic:
  CDT/CDG
• ABN:
  Required – Not FDA-Approved
• CPT Code:
  82373
• LOINC Code:
  19146-0
• Ref Lab Test No:
  CDG | 89891
• Also Known As:
  Carbohydrate Deficient Glycoprotein Syndrome (CDGS)
  CDT (Carbohydrate Deficient Transferrin)
  Congenital Disorders of Glycosylation (CDG)
  Glycoprotein Syndrome, Carbohydrate Deficient
  Transferrin Isoforms
• Also See:
  42276 Carbohydrate Deficient Transferrin, Adult, Serum
• Spec Type:
  Serum
• Spec Container:
  Gold top (SST) or Red top (serum) tube
• Pref Vol:
  0.1 mL
• Min Vol:
  0.05 mL
• Fasting:
  No
• Patient Prep:
  This test is for congenital disorders of glycosylation. If the ordering physician is looking for evaluation of alcohol abuse, please order #42276 Carbohydrate Deficient Transferrin, Adult, Serum.
• Spec Collect:
  Routine venipuncture
• Spec Process:
  Clot 30 minutes
  Promptly centrifuge 15 minutes
  Immediately transfer serum to separate plastic tube and freeze
• Spec Store Transport:
  Frozen
• Spec Remarks:
  Please provide a reason for referral with each specimen
  Patient's age is required on request form for processing
• Methodology:
  Affinity Chromatography/Mass Spectrometry (MS)
• Use:
  Screening* test for congenital disorders of glycosylation
  *Positive test could be due to a genetic or non-genetic condition. Additional confirmatory testing is required
• Clinical Significance:
  

  Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome are a group of inherited metabolic diseases that affect the one of the steps of the pathway involved in glycosylation. CDG typically present as multisystemic disorders with developmental delay, hypotonia, abnormal magnetic resonance imaging findings, hypoglycemia, and protein-losing enteropathy. There is considerable variation in the severity of this group of diseases, ranging from hydrops fetalis to a mild presentation in adults. In some subtypes (Ib, in particular), intelligence is not compromised. CDG-Ia should be suspected in all patients with developmental delay, unexplained liver dysfunction, abnormal subcutaneous fat distribution, stroke-like episodes, unexplained hypoglycemia, liver disease, and with or without chronic diarrhea. The differential diagnosis of abnormal transferrin patterns also includes liver disease not related to CDG including galactosemia, hereditary fructose intolerance, and liver disease of unexplained etiology.

  This transferrin isoform analysis test is the initial screening test for CDG. The results of the transferrin isoform analysis should be correlated with the clinical presentation to determine the most appropriate testing strategy. If either CDG-Ia or CDG-Ib are suspected, it should be followed by enzymatic analysis for phosphomannomutase and phosphomannose isomerase.

• Reference Range:
  

  MONO-OLIGOSACCHARIDE/DI-OLIGOSACCHARIDE
  < or = 0.100
  A-OLIGOSACCHARIDE/DI-OLIGOSACCHARIDE
  < or = 0.050

  Interpretation:
  Results are reported as the mono-oligosaccharide/di-oligosaccharide transferrin ratio and the a-oligosaccharide/di-oligosaccharide transferrin ratio. Elevations in the mono-oligosaccharide/di-oligosaccharide transferrin ratio are suggestive of a congenital disorder of glycosylation (CDG). The report will include the quantitative results and an interpretation.

  Reports of abnormal results will include recommendations for additional biochemical and molecular genetic studies to more precisely identify the correct form of CDG. Treatment options, the name and telephone number of contacts who may provide these studies at Mayo Clinic or elsewhere, and a telephone number for one of the laboratory directors (if the referring physician has additional questions) will be provided.

  Cautions:
  Other conditions such as hereditary fructose intolerance, galactosemia, and liver disease may result in increased levels of carbohydrate deficient transferrin. Relevant clinical information and the indication for the analysis should be provided with the specimen, in particular for nonpediatric patients.

  Reference:
  "Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum." 2011 Online Test Catalog, Mayo Medical Laboratories, 2011. Web. 18 November 2011 <http://www.mayomedicallaboratories.com/test-catalog/Overview/89891>

• Additional Test Info:
  This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.
• Day Run:
  Mon, Wed, Fri
• Time Run:
  8:00 am
• Time Reported:
  4-7 days
• Test Type:
  CHEMISTRY