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Order Code ASMW Acid Sphingomyelinase, 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.



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.


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

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.

Genetics Test Information

This test provides diagnostic testing for patients with decreased acid sphingomyelinase activity on newborn screen or with clinical signs and symptoms suspicious for Niemann-Pick type A or B.

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)

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Reporting Name

Acid Sphingomyelinase, Leukocytes

Specimen Type

Whole Blood ACD

Specimen 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.

Method Description

The specimens are incubated with a mix of substrate and internal standard for acid sphingomyelinase ,beta-glucocerebrosidase , acid alpha-glucosidase , alpha-galactosidase , galactocerebrosidase  and alpha-L-iduronidase . The sample is then purified by liquid-liquid extraction. The extract is evaporated and reconstituted before analysis by tandem mass spectrometry.(Unpublished Mayo method)

Day(s) Performed

Preanalytical processing: Monday through Saturday.

Assay performed: Monday, Wednesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657