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Test ID 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. Pre-analytical processing is performed Monday through Friday and Sunday. This test may be canceled if specimens are outside of stability when processing occurs. Collect and package specimens for arrival on days when processing is performed.



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.

Secondary ID

606264

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.

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)

Specimen Type

Whole Blood ACD

Specimen Stability Information

Specimen Type Temperature Time
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.

Day(s) Performed

Preanalytical processing: Monday through Friday, Sunday

Assay performed: Monday, Thursday

Report Available

2 to 5 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657