Test ID MPS4W Mucopolysaccharidosis IV Enzyme Panel, Leukocytes
Shipping Instructions
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.
Necessary Information
1. Patient's age is required.
2. Reason for testing is required.
Specimen Required
Container/Tube:
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602)
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB in whole blood specimens
This test is not useful for carrier detection.
Special Instructions
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
MPS IV Panel, WBCSpecimen Type
Whole Blood ACDSpecimen Minimum Volume
5 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole Blood ACD | Refrigerated (preferred) | 6 days | |
Ambient | 6 days |
Reference Values
N-acetylgalactosamine-6-sulfatase: >1.60 nmol/hour/mg protein
Beta-galactosidase: >0.28 nmol/hour/mg protein
An interpretive report will be provided.
Day(s) Performed
Preanalytical processing: Monday through Saturday
Testing performed: Tuesday
Report Available
8 to 15 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82657
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
MPS4W | MPS IV Panel, WBC | 104072-4 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
BG769 | Reason for Referral | 42349-1 |
618462 | N-acetylgalactosamine-6-sulfatase | 24096-0 |
618463 | Beta-galactosidase | 24061-4 |
618464 | Interpretation | 59462-2 |
618461 | Reviewed By | 18771-6 |