Lysosomal Storage Disease Testing

The GGC Diagnostic Laboratory has more than 30 years of experience with lysosomal storage disease testing. We offer a full range of testing for patients with a suspected lysosomal storage disease including urine screening, enzyme analysis, and molecular confirmation by gene sequencing and dosage analysis. Our goal is to provide comprehensive testing services from diagnosis to treatment monitoring.

 Comprehensive Diagnostic Testing Includes:

  • Biomarker, enzyme and molecular analysis
  • Enzyme analysis for 25 lysosomal enzymes (15 of which can be performed using DBS)
  • Sanger sequencing analysis for 29 lysosomal storage disorder genes (all of which can be performed using DBS)
  • Quantitative component glycosaminoglycan (GAG) analysis in urine
  • Coming soon: blood-based biomarker analysis for Krabbe disease, Gaucher disease, Niemann-Pick disease A/B and Fabry disease

LSD Newborn Screening Follow-up Testing

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More Information Coming Soon!

Our goal is to provide comprehensive testing services from diagnosis to treatment monitoring.

 

Test Finder

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Biochemical Lab Faculty

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