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Test Code MPS Enz Mucopolysaccharidosis Enzyme Panel

Important Note

DRAW M - Th 10 AM to 2 PM! Must be shipped same day - cannot be collected on weekends or holidays. Blood samples MUST reach reference lab within 24 hours.

Clinical System Name

Mucopolysaccharidosis Enzyme Panel

Description

Disease Names:

Hurler syndrome (MPS I)
Hunter syndrome (MPS II)
Sanfilippo syndrome, Types A,B,C and D (MPS IIIA, B, C and D)
Morquio syndrome, Types A and B (MPS IVA and B)
Maroteaux Lamy syndrome (MPS VI)
Sly syndrome (MPD VII)

Sample Requirements

Specimen: Whole Blood or Skin Sample

Container(s): Dark Green/Sodium Heparin or Light Green/Lithium Heparin Tube

Preferred Vol: 10.0 mL

Minimum Vol: 5.0 mL

 

Note: Leukocytes can be used for all assays with the exception of Sanfilippo B which requires plasma. Whole blood should be collected in a sodium heparin (green top) tube. Send blood in two green top tubes (7-10 ml). Notify send outs at 7-2563.

Processing Instructions

Reject due to: Inability to get sample to reference lab within 24 hours of collection. Refrigeration or freezing.

Spin: N

Aliquot: N

Temp: RT

Storage location: Affix large Cerner labels to tubes and place in send-outs room temperature rack. Store a copy of the requisition in the send outs box attached to CPA fridge. Alert Send-outs team.

If Skin is collected, forward biopsy to cytogenetics.

 

Off-site collection:

Stability

Specimen Type Temperature Time
Whole Blood Room temp Y
  Refrigerated N
  Frozen N

 

Availability

STAT Performed TAT
N   2 wks

 

*Cell culture (skin) can take 1-4 weeks and may lengthen turnaround time.

Performing Laboratory

Greenwood Genetic Center

Department

Greenwood Genetic Center

1 Gregor Mendel Circle
Greenwood, SC 29646
1 (888) GGC-GENE

 

Reference Range

Interpretive report provided.
 

Methodology

Method: Assays employ a 4-methylumbelliferyl substrate.

Analytical Volume:

Limitations:

CPT Codes

82657 (x5)

Send Out Instructions

 

Reference Test Name: Mucopolysaccharidosis Enzyme Analysis
Reference Test Number:  
Instructions: Ship overnight at room temperature M - Th via FedEx.