Home
HelpTest Code MPS Enz Mucopolysaccharidosis Enzyme Panel
Clinical System Name
Mucopolysaccharidosis Enzyme Panel
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 | 24 h |
| 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
106 Gregor Mendel Circle
Greenwood, SC 29646
Phone Number: (888) 442-4363
Department
Department: Send Outs
Phone Number: (206) 987-2563
CPT Codes
82657 (x5)
Methodology
Method: Assays employ a 4-methylumbelliferyl substrate.
Analytical Volume:
Limitations:
Reference Range
Interpretive report provided.
Send Out Instructions
| Reference Test Name: | Mucopolysaccharidosis 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. |
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)