Sanfilippo Syndrome Panel (MPS Types IIIA,B,C and D) – Enzyme Analysis

Disease name Sanfilippo syndrome, Types A, B, C and D (MPS IIIA, B, C and D)
Enzyme Name Sanfilippo, Type A - Heparan-N-sulfatase
Sanfilippo, Type B - N-acetyl-alpha-D-glucosaminidase
Sanfilippo, Type C - Acetyl CoA: glucosamine N acetyl transferase
Sanfilippo, Type D - N-acetyl glucosamine-6-sulfatase
Clinical info Sanfilippo syndrome is characterized by progressive developmental delay and behavioral problems. These patients have fewer of the somatic concerns seen in other types of MPS disorders.
Indications There are four enzymatically distinct forms of Sanfilippo syndrome with significant clinical overlap. Enzymatic testing is necessary to further distinguish between the following four types. These four enzymes are required for the modification and removal of glucosamine residues from heparan sulfate. These defects result in the accumulation of heparan sulfate in the patient’s cells and organs which overtime leads to the clinical phenotype. Enzyme analysis for each type of Sanfilippo syndrome may be ordered individually or as a panel. Prenatal diagnosis or carrier testing via enzyme analysis is not available.
Methodology Assay will employ a 4-methylumbelliferyl substrate.
Associated Tests In all four types, urinary excretion of heparan sulfate is seen which can be assessed via mucopolysaccharide electrophoresis. Molecular analysis of the genes for Sanfilippo, Type A (SGSH) and Sanfilippo, Type B (NAGLU) is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis. However, it is strongly recommended that the enzymatic defect be identified in the proband before molecular testing is performed.
Specimen Requirements Fibroblasts or a sodium heparin (green top) tube of peripheral blood. Leukocytes are used for enzyme analysis for Sanfilippo A, C and D. Plasma is used for enzyme analysis for Sanfilippo B. If ordering the panel, a sodium heparin (green top) tube is acceptable from which the plasma can be pulled off for type B and then  leukocytes can be isolated for types A, C and D. Enzymes  can also be measured via fibroblasts for all four types.
Transport Please contact the laboratory before transporting tissue for enzyme assay. Fresh tissue for culture should be sent by courier or 24-hour delivery. Blood should be collected in a sodium heparin tube and shipped overnight.
Turnaround time 14 days
Cell culture can take 1-4 weeks and may lengthen turnaround time.
CPT Codes Single enzyme: 82657
Panel of Sanfilippo A, B, C and D: 82657(x4)
Cost $200 for a single enzyme
$800 for full panel
Contact For further information contact Kellie King, MS or Tim Wood, PhD at 1-800-473-9411

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