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HelpTest Code Sanfil Enz Sanfilippo Syndrome types A, B, C, and D
Clinical System Name
Sanfilippo Syndrome Enzyme Panel
Sample Requirements
Specimen: Whole Blood
Container(s): Dark Green/Sodium Heparin
Preferred Vol: 10.0 mL
Minimum Vol: 7.0 mL
Note: Samples should be drawn Monday - Thursday 10:00 AM - 13:00 PM ONLY. Send tube(s) to lab immediately. Samples MUST reach the reference lab within 24 hours from the time of collection.
Processing Instructions
Reject due to: Sample collected 1430 PM - 2400 PM and Friday - Sunday.
Spin: N
Aliquot: N
Temp: RT
Storage location: Process sample immediately. Do not spin. Affix large Cerner label and place in room temp Send Outs rack. Notify the Send Outs department.
Off-site collection: Contact the Send Outs department.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood | Room temp | 24 h |
| Refrigerated | Unacceptable | |
| Frozen | Unacceptable |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | 2 - 4 w |
Performing Laboratory
Greenwood Genetic Center
Biochemical Diagnostic Laboratory
106 Gregor Mendel Circle
Greenwood, SC 29646
Phone: (800) 473-9411
Department
Department: Send Outs
Phone: (206) 987-2563
CPT Codes
| Single Enzyme: | 82657 |
| Panel of Sanfilippo A, B, C, and D: | 82657 (x4) |
Methodology
Method: Assay will employ a 4-methylumbelliferyl substrate.
Analytical Volume: 7.0 mL Whole Blood
Limitations:
Reference Range
Interpretive report provided.
Send Out Instructions
| Reference Test Name: | Sanfilippo Syndrome Panel (MPS Types III A, B, C, and D) - Enzyme Analysis |
| Reference Test Number: | |
| Instructions: | Ship at room temperature via FedEx Priority Overnight Monday through Friday. Greenwood Genetic Center does not accept Saturday delivery. |
Clinical Utility
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.