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Test Code Sanfil Enz Sanfilippo Syndrome types A, B, C, and D

Important Note

Samples MUST be drawn Monday - Thursday 1000 AM-1430 PM ONLY.

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: 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

 

Reference Range

Interpretive report provided.
 

Methodology

Method: Assay will employ a 4-methylumbelliferyl substrate.

Analytical Volume: 7.0 mL Whole Blood

Limitations:

CPT Codes

Single Enzyme: 82657
Panel of Sanfilippo A, B, C, and D: 82657 x4

 

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.

Send Out Instructions

Reference Test Name: Sanfilippo Syndrome Panel (MPS Types III A, B, C, and D) - Enzyme Analysis
Reference Test Number:  
Instructions: Ship whole blood at room temperature, priority overnight via FedEx.