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Test 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)

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.

Day(s) Performed

Preanalytical processing: Monday through Saturday.

Assay performed: Monday, Wednesday

Report Available

5 to 10 days

Specimen Retention Time

WBC homogenate: 1 month

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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