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HelpTest Code ASMW Acid Sphingomyelinase, Leukocytes
Reporting Name
Acid Sphingomyelinase, LeukocytesPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Investigation of possible diagnosis of Niemann-Pick disease types A and B
This test is not recommended for carrier detection because of the wide range of enzymatic activities observed in carriers and noncarriers.
Method Name
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
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.
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 specimen in original tube. Do not aliquot.
Specimen Type
Whole Blood ACDSpecimen Minimum Volume
2 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
≥0.32 nmol/hour/mg protein
An interpretative report will be provided.
Interpretation
Values below the reference range are consistent with a diagnosis for Niemann-Pick types A and B.
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), name and phone number of key contacts who may provide these studies, and 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.
Assay performed: Monday, Wednesday
Report Available
5 to 10 daysTest 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 |
|---|---|---|
| ASMW | Acid Sphingomyelinase, Leukocytes | 24101-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 606264 | Acid Sphingomyelinase, Leukocytes | 24101-8 |
| 606265 | Interpretation | 59462-2 |
| 606266 | Reviewed By | 18771-6 |
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.
Testing Algorithm
For more information see Newborn Screen Follow-up for Acid Sphingomyelinase Deficiency
If the patient has abnormal newborn screening results for Niemann- Pick disease, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)