Niemann Pick A/B - Enzyme Analysis

Disease name Acid Sphingomyelinase Deficiency
Niemann Pick Disease type A or type B
Enzyme Name Acid sphingomyelinase
Clinical info

Niemann-Pick disease caused by acid sphingomyelinase deficiecncy is subdivided into two types.  Type A, also called neuronopathic, is the more severe.  These patients will usually present with hepatosplenomegaly within the first few months and will have progressive neurologic deterioration typically beginning by 12 months.  A cherry-red spot on the retina will eventually be present in all affected children.  Children with Niemann-Pick type A do not typically survive past 3 years.

Type B, or non-neuronopathic, is usually milder with a later onset.  Progressive hepatosplenomegaly, gradual deterioration in pulmonary function, and an abnormal lipid profile are common manifestations for these patients.  A small percentage of individuals with type B will have neurologic signs or a cherry-red spot.

Indications Patients with a suspected diagnosis of Niemann Pick type A or B. Prenatal diagnosis and carrier testing via enzyme analysis are not available
Specimen Requirements

The acid sphingomyelinase enzyme analysis is performed on dried blood spots. A minimum of three circles need to be filled in.  Each circle should contain one drop of blood (about 100 microliters).  See the link below for additional sample collection and handling instructions.  A whole blood sample (3-5 ml) in a green top, sodium heparin tube can also be submitted for this test.

Sample Collection and Requirements

In addition, a dried blood spot sample can be used for Niemann Pick A/B Disease molecular analysis and may be sent for DNA banking. Please indicate on the requisition if DNA should be banked for follow-up molecular testing.

Transport For a dried blood spot:  When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples should be placed in the mail within 24 hours of collection. Overnight shipping is preferred.

Whole blood samples should be sent at ambient temperature and must arrive to the laboratory within 24 hours of specimen collection.
Turnaround time 14 days
CPT Codes 82657
Cost $200
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.


Dried Blood Spot Analysis: A 50% discount will be applied for enzyme analysis from a dried blood spot reducing the price to $100.

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