Sanfilippo syndrome A (MPS IIIA), Sanfilippo syndrome B (MPS IIIB), Sanfilippo syndrome C (MPS IIIC), Sanfilippo syndrome D (MPS IIID)
Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS)
Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS)
This test quantitatively measures total glycosaminoglycans (GAGs) and heparan sulfate (HS) and can be used to monitor disease progression in patients with Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III). It can also be used to monitor disease progression or the effectiveness of treatments such as bone marrow transplant or enzyme replacement therapy.
Clinical Information
Mucopolysaccharidoses are a group of inherited lysosomal storage diseases, each with a distinctive phenotype and a progressive course due to a specific enzyme deficiency. These enzymes are involved in the degradation of specific glycosaminoglycans. Glycosaminoglycans are typically elevated in the urine of affected patents.
Technical Information
Total glycosaminoglycans are analyzed by 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry at a wavelength of 656nm.
Heparan sulfate is analyzed by liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Specimen Requirements
Urine: A minimum of 2 mL random catch urine
Transport Instructions
Urine: Specimen should be frozen after collection and shipped frozen, preferably on dry ice
Associated Tests
- Sanfilippo Syndrome A (MPS IIIA): Heparan-N-Sulfatase Enzyme Analysis
- Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing
- Sanfilippo Syndrome B (MPS IIIB): N-Acetyl-Alpha-Glucosaminidase Enzyme Analysis
- Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing
- Sanfilippo Syndrome C (MPS IIIC): Acetyl CoA Glucosamine N-Acetyltransferase Enzyme Analysis
- Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing
- Sanfilippo Syndrome D (MPS IIID): GNS Sequencing
- Sanfilippo Syndrome D (MPS IIID): N-Acetylglucosamine-6-Sulfatase Enzyme Analysis
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC