Congenital Disorders of Glycosylation 

Overview

• Congenital Disorders of Glycosylation (CDG) are a group of rapidly expanding metabolic disorders that arise due to abnormal protein or lipid glycosylation. There are difficulties trying to diagnose them because they broadly affect many organs and functions, demonstrating a clinical heterogeneity. These phenotypically diverse disorders present as clinical syndromes affecting multiple systems including the central nervous system, muscle function, transport, regulation, immunity, endocrine system, and coagulation. Over 150 different CDGs have been and those affecting N-glycosylation are the most common type.  
• The Igenomix Congenital Disorders of Glycosylation Precision Panel can be used to make an accurate and directed diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

• The Igenomix Congenital Disorders of Glycosylation Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: 
  • Low muscle tone or floppiness 
  • Failure to thrive 
  • Gross developmental delay 
  • Liver disease 
  • Abnormal bleeding or blood clotting 
  • Misaligned or crossed eyes 
  • Seizures 
  • Stroke-like episodes 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
• Early initiation of treatment with a multidisciplinary team in the form of nutritional therapy, transplantation, activated sugars, gene therapy and pharmacological chaperones. 
• Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
• Improvement of delineation of genotype-phenotype correlation given the clinical and genetically heterogenous profile of CDGs.  

Genes & Diseases