Niemann-Pick disease A/B : Acid sphingomyelinase Enzyme Analysis (DBS)

Test Information

This biochemical test is a quantitative measurement of acid sphingomyelinase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Niemann-Pick A/B disease. Demonstration of deficient sphingomyelinase enzyme activity is considered the gold standard to confirm a diagnosis of Niemann-Pick A/B disease.

Turnaround Time

2 weeks

CPT Code(s)

82657

Cost

$200


Enzymes

Acid sphingomyelinase

Clinical Information

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

This test can be requested for patients with a suspected diagnosis of Niemann Pick type A or B. Demonstration of deficient enzyme activity is considered the gold standard to confirm the diagnosis.

Methodology

ultra-performance liquid chromatography and tandem mass spectrometry (UPLC-MS/MS)

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). A whole blood sample (3-5 ml) in a green top, sodium heparin tube can also be submitted for this test.

Transport Instructions

Whole blood should be sent over overnight at ambient temperature and needs to arrive to the lab within 24 hours of collection.

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.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Biochemical Testing, Enzyme Analysis, Individual Enzyme Assays
One Mother's Story

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky....

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