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HelpTest Code MSDW Multiple Sulfatase Deficiency, 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 multiple sulfatase deficiency 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
Multiple sulfatase deficiency, 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 |
Reject Due To
| Gross hemolysis | Reject |
Reference Values
Iduronate-2-sulfatase: >2.20 nmol/hour/mg protein
Heparan-N-sulfatase: >0.13 nmol/hour/mg protein
N-acetylglucosamine-6-sulfatase: >0.03 nmol/hour/mg protein
N-acetylgalactosamine-6-sulfatase: >1.60 nmol/hour/mg protein
An interpretive report will be provided.
Interpretation
Abnormal results are not sufficient to establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on this assay, additional biochemical or molecular genetic analyses are required.
When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing, and in vitro, confirmatory studies (enzyme assay, molecular analysis), a phone number to reach one of the laboratory directors in case the referring physician has additional questions.
Day(s) Performed
Preanalytical processing: Monday through Saturday
Testing performed: Tuesday
Report Available
8 to 15 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82657
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MSDW | Multiple sulfatase deficiency, WBC | 104073-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| BG771 | Reason for Referral | 42349-1 |
| 618466 | Iduronate-2-sulfatase | 24089-5 |
| 618467 | Heparan-N-sulfatase | 24086-1 |
| 620156 | N-acetylglucosamine-6-sulfatase | 24098-6 |
| 618468 | N-acetylgalactosamine-6-sulfatase | 24096-0 |
| 618469 | Interpretation | 59462-2 |
| 618465 | Reviewed By | 18771-6 |